-
1
-
-
0020583122
-
Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes
-
Aarskog D, Ose L, Pande H, Eide N. 1983. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. Am J Med Genet 15:29-38.
-
(1983)
Am J Med Genet
, vol.15
, pp. 29-38
-
-
Aarskog, D.1
Ose, L.2
Pande, H.3
Eide, N.4
-
2
-
-
42049087364
-
The genetic aetiology of Silver-Russell syndrome
-
Abu Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. 2008. The genetic aetiology of Silver-Russell syndrome. J Med Genet 45:193-199.
-
(2008)
J Med Genet
, vol.45
, pp. 193-199
-
-
Abu Amero, S.1
Monk, D.2
Frost, J.3
Preece, M.4
Stanier, P.5
Moore, G.E.6
-
3
-
-
0030041820
-
Two more diagnostic signs in the Floating-Harbor syndrome
-
Ala-Mello S, Peippo M. 1996. Two more diagnostic signs in the Floating-Harbor syndrome. Clin Dysmorphol 5:85-88.
-
(1996)
Clin Dysmorphol
, vol.5
, pp. 85-88
-
-
Ala-Mello, S.1
Peippo, M.2
-
4
-
-
4744373557
-
The first Finnish patient with the Floating-Harbor syndrome: The follow-up of eight years
-
Ala-Mello S, Peippo M. 2004. The first Finnish patient with the Floating-Harbor syndrome: The follow-up of eight years. Am J Med Genet Part A 130A:317-319.
-
(2004)
Am J Med Genet
, vol.130 A
, Issue.PART A
, pp. 317-319
-
-
Ala-Mello, S.1
Peippo, M.2
-
6
-
-
0034657858
-
Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome
-
Al-Nemri AR, Kilani RA, Salih MA, Al-Ajlan AA. 2000. Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome. Am J Med Genet 92:107-110.
-
(2000)
Am J Med Genet
, vol.92
, pp. 107-110
-
-
Al-Nemri, A.R.1
Kilani, R.A.2
Salih, M.A.3
Al-Ajlan, A.A.4
-
7
-
-
0033615467
-
Dubowitz syndrome: A defect in the cholesterol biosynthetic pathway?
-
Ahmad A, Amalfitano A, Chen YT, Kishnani PS, Miller C, Kelley R. 1999. Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? Am J Med Genet 86:503-504.
-
(1999)
Am J Med Genet
, vol.86
, pp. 503-504
-
-
Ahmad, A.1
Amalfitano, A.2
Chen, Y.T.3
Kishnani, P.S.4
Miller, C.5
Kelley, R.6
-
8
-
-
0037110930
-
Gastrointestinal complications of Russell-Silver syndrome: A pilot study
-
Anderson J, Viskochil D, O'Gorman M, Gonzales C. 2002. Gastrointestinal complications of Russell-Silver syndrome: A pilot study. Am J Med Genet 113:15-19.
-
(2002)
Am J Med Genet
, vol.113
, pp. 15-19
-
-
Anderson, J.1
Viskochil, D.2
O'Gorman, M.3
Gonzales, C.4
-
10
-
-
0033918327
-
Gene encoding a new RING-B-box-Coiled coil protein is mutated in mulibrey nanism
-
Avela K, Lipsanen-Nyman M, Idänheimo N, Seemanová E, Rosengren S, Mäkelä TP, Perheentupa J, Chapelle AD, Lehesjoki AE. 2000. Gene encoding a new RING-B-box-Coiled coil protein is mutated in mulibrey nanism. Nat Genet 25:298-301.
-
(2000)
Nat Genet
, vol.25
, pp. 298-301
-
-
Avela, K.1
Lipsanen-Nyman, M.2
Idänheimo, N.3
Seemanová, E.4
Rosengren, S.5
Mäkelä, T.P.6
Perheentupa, J.7
Chapelle, A.D.8
Lehesjoki, A.E.9
-
11
-
-
0029045776
-
Monozygotic twins discordant for the Russell-Silver syndrome
-
Bailey W, Popovich B, Jones KL. 1995. Monozygotic twins discordant for the Russell-Silver syndrome. Am J Med Genet 58:101-105.
-
(1995)
Am J Med Genet
, vol.58
, pp. 101-105
-
-
Bailey, W.1
Popovich, B.2
Jones, K.L.3
-
13
-
-
0028862462
-
Absent iris stroma, narrow body build and small facial bones: A new association or variant of SHORT syndrome?
-
Bankier A, Keith CG, Temple IK. 1995. Absent iris stroma, narrow body build and small facial bones: A new association or variant of SHORT syndrome? Clin Dysmorphol 4:304-312.
-
(1995)
Clin Dysmorphol
, vol.4
, pp. 304-312
-
-
Bankier, A.1
Keith, C.G.2
Temple, I.K.3
-
15
-
-
62149105139
-
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes
-
Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. 2009. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet 46:192-197.
-
(2009)
J Med Genet
, vol.46
, pp. 192-197
-
-
Bartholdi, D.1
Krajewska-Walasek, M.2
Ounap, K.3
Gaspar, H.4
Chrzanowska, K.H.5
Ilyana, H.6
Kayserili, H.7
Lurie, I.W.8
Schinzel, A.9
Baumer, A.10
-
16
-
-
34249097166
-
Epigenetic determinants of cancer
-
Allis CD, Jenuwein T, Reinberg D, Caparros M-L, editors, Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press. pp
-
Baylin SB, Jones PA. 2007. Epigenetic determinants of cancer. In: Allis CD, Jenuwein T, Reinberg D, Caparros M-L, editors. Epigenetics. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press. pp 457-476.
-
(2007)
Epigenetics
, pp. 457-476
-
-
Baylin, S.B.1
Jones, P.A.2
-
17
-
-
42049122139
-
The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration
-
Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA, Eggermann T, Ranke MB. 2008. The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration. J Clin Endocrinol Metab 93:1402-1407.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 1402-1407
-
-
Binder, G.1
Seidel, A.K.2
Martin, D.D.3
Schweizer, R.4
Schwarze, C.P.5
Wollmann, H.A.6
Eggermann, T.7
Ranke, M.B.8
-
18
-
-
33645463808
-
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
-
Bliek J, Terhal P, van den Bogaard MJ, Maas S, Hamel B, Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M. 2006. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet 78:604-614.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 604-614
-
-
Bliek, J.1
Terhal, P.2
van den Bogaard, M.J.3
Maas, S.4
Hamel, B.5
Salieb-Beugelaar, G.6
Simon, M.7
Letteboer, T.8
van der Smagt, J.9
Kroes, H.10
Mannens, M.11
-
19
-
-
84944972302
-
Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity
-
Bloom D. 1954. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. Am J Dis Child 88:754-758.
-
(1954)
Am J Dis Child
, vol.88
, pp. 754-758
-
-
Bloom, D.1
-
20
-
-
0013871317
-
The syndrome of congenital telangiectatic erythema and stunted growth
-
Bloom D. 1966. The syndrome of congenital telangiectatic erythema and stunted growth. J Pediatr 68:103-113.
-
(1966)
J Pediatr
, vol.68
, pp. 103-113
-
-
Bloom, D.1
-
21
-
-
28444440611
-
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies
-
Brancati F, Castori M, Mingarelli R, Dallapiccola B. 2005. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. Am J Med Genet Part A 139A:212-215.
-
(2005)
Am J Med Genet
, vol.139 A
, Issue.PART A
, pp. 212-215
-
-
Brancati, F.1
Castori, M.2
Mingarelli, R.3
Dallapiccola, B.4
-
22
-
-
0037633870
-
Dietary protein restriction in pregnancy induces hypertension and vascular defects in rat male offspring
-
Brawley L, Itoh S, Torrens C, Barker A, Bertram C, Poston L, Hanson M. 2003. Dietary protein restriction in pregnancy induces hypertension and vascular defects in rat male offspring. Pediatr Res 54:83-90.
-
(2003)
Pediatr Res
, vol.54
, pp. 83-90
-
-
Brawley, L.1
Itoh, S.2
Torrens, C.3
Barker, A.4
Bertram, C.5
Poston, L.6
Hanson, M.7
-
23
-
-
0029737012
-
Rieger anomaly and congenital glaucoma in the SHORT syndrome
-
Brodsky MC, Whiteside-Michel J, Merin LM. 1996. Rieger anomaly and congenital glaucoma in the SHORT syndrome. Arch Ophthalmol 114:1146-1147.
-
(1996)
Arch Ophthalmol
, vol.114
, pp. 1146-1147
-
-
Brodsky, M.C.1
Whiteside-Michel, J.2
Merin, L.M.3
-
24
-
-
0033174156
-
Transmission of risk factors across three generations
-
Brook JS, Whiteman M, Brook DW. 1999. Transmission of risk factors across three generations. Psychol Rep 85:227-241.
-
(1999)
Psychol Rep
, vol.85
, pp. 227-241
-
-
Brook, J.S.1
Whiteman, M.2
Brook, D.W.3
-
25
-
-
59749088105
-
Clinically distinct epigenetic subgroups in Silver-Russell syndrome: The degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies
-
Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M. 2009. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: The degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. J Clin Endocrinol Metab 94:579-587.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 579-587
-
-
Bruce, S.1
Hannula-Jouppi, K.2
Peltonen, J.3
Kere, J.4
Lipsanen-Nyman, M.5
-
26
-
-
45249092139
-
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome
-
Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL. 2008. Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. J Med Genet 45:396-399.
-
(2008)
J Med Genet
, vol.45
, pp. 396-399
-
-
Bullman, H.1
Lever, M.2
Robinson, D.O.3
Mackay, D.J.4
Holder, S.E.5
Wakeling, E.L.6
-
27
-
-
0023681329
-
Transgenerational effects of drug and hormonal treatments in mammals: A review of observations and ideas
-
Campbell JH, Perkins P. 1988. Transgenerational effects of drug and hormonal treatments in mammals: A review of observations and ideas. Prog Brain Res 73:535-553.
-
(1988)
Prog Brain Res
, vol.73
, pp. 535-553
-
-
Campbell, J.H.1
Perkins, P.2
-
28
-
-
0016838274
-
Trisomy-18 mosaicism with features of Russel-Silver syndrome
-
Chauvel PJ, Moore CM, Haslam RH. 1975. Trisomy-18 mosaicism with features of Russel-Silver syndrome. Dev Med Child Neurol 17:220-224.
-
(1975)
Dev Med Child Neurol
, vol.17
, pp. 220-224
-
-
Chauvel, P.J.1
Moore, C.M.2
Haslam, R.H.3
-
29
-
-
0035425563
-
Successful pregnancy in a woman with Bloom syndrome
-
Chisholm CA, Bray MJ, Karns LB. 2001. Successful pregnancy in a woman with Bloom syndrome. Am J Med Genet 102:136-138.
-
(2001)
Am J Med Genet
, vol.102
, pp. 136-138
-
-
Chisholm, C.A.1
Bray, M.J.2
Karns, L.B.3
-
30
-
-
0024246131
-
Hepatocellular carcinoma in a child with familial Russell-Silver syndrome
-
Chitayat D, Friedman JM, Anderson L, Dimmick JE. 1988. Hepatocellular carcinoma in a child with familial Russell-Silver syndrome. Am J Med Genet 31:909-914.
-
(1988)
Am J Med Genet
, vol.31
, pp. 909-914
-
-
Chitayat, D.1
Friedman, J.M.2
Anderson, L.3
Dimmick, J.E.4
-
31
-
-
0017883116
-
Deletion short arm 18 and Silver-Russell syndrome
-
Christensen MF, Nielsen J. 1978. Deletion short arm 18 and Silver-Russell syndrome. Acta Paediatr Scand 67:101-103.
-
(1978)
Acta Paediatr Scand
, vol.67
, pp. 101-103
-
-
Christensen, M.F.1
Nielsen, J.2
-
33
-
-
33751251702
-
Germ cells carry the epigenetic benefits of grandmother's diet
-
Cooney CA. 2006. Germ cells carry the epigenetic benefits of grandmother's diet. Proc Natl Acad Sci USA 103:17071-17072.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 17071-17072
-
-
Cooney, C.A.1
-
34
-
-
44149101388
-
Genomic imprinting at the mammalian Dlk1-Dio3 domain
-
da Rocha ST, Edwards CA, Ito M, Ogata T, Ferguson-Smith AC. 2008. Genomic imprinting at the mammalian Dlk1-Dio3 domain. Trends Genet 24:306-316.
-
(2008)
Trends Genet
, vol.24
, pp. 306-316
-
-
da Rocha, S.T.1
Edwards, C.A.2
Ito, M.3
Ogata, T.4
Ferguson-Smith, A.C.5
-
35
-
-
0029730559
-
Floating-Harbor syndrome. A neuropsychological approach
-
Davalos IP, Figuera LE, Bobadilla L, Martinez-Martinez R, Matute E, Partida MG, Bañuelos LA, Ramirez-Dueñas ML. 1996. Floating-Harbor syndrome. A neuropsychological approach. Genet Couns 7:283-288.
-
(1996)
Genet Couns
, vol.7
, pp. 283-288
-
-
Davalos, I.P.1
Figuera, L.E.2
Bobadilla, L.3
Martinez-Martinez, R.4
Matute, E.5
Partida, M.G.6
Bañuelos, L.A.7
Ramirez-Dueñas, M.L.8
-
37
-
-
0035191323
-
Genomic structure of karyopherin alpha2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome
-
Dörr SN, Schlicker MN, Hansmann IN. 2001. Genomic structure of karyopherin alpha2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome. Hum Genet 109:479-486.
-
(2001)
Hum Genet
, vol.109
, pp. 479-486
-
-
Dörr, S.N.1
Schlicker, M.N.2
Hansmann, I.N.3
-
39
-
-
0013089333
-
Familial low birthweight dwarfism with an unusual facies and a skin eruption
-
Dubowitz V. 1965. Familial low birthweight dwarfism with an unusual facies and a skin eruption. J Med Genet 42:12-17.
-
(1965)
J Med Genet
, vol.42
, pp. 12-17
-
-
Dubowitz, V.1
-
40
-
-
0025060730
-
Three-generation dominant transmission of the Silver-Russell syndrome
-
Duncan PA, Hall JG, Shapiro LR, Vibert BK. 1990. Three-generation dominant transmission of the Silver-Russell syndrome. Am J Med Genet 35:245-250.
-
(1990)
Am J Med Genet
, vol.35
, pp. 245-250
-
-
Duncan, P.A.1
Hall, J.G.2
Shapiro, L.R.3
Vibert, B.K.4
-
41
-
-
0036707796
-
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Russel-Silver patient
-
Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M. 2002. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Russel-Silver patient. Am J Med Genet 111:405-408.
-
(2002)
Am J Med Genet
, vol.111
, pp. 405-408
-
-
Dupont, J.M.1
Cuisset, L.2
Cartigny, M.3
Le Tessier, D.4
Vasseur, C.5
Rabineau, D.6
Jeanpierre, M.7
-
42
-
-
34248640269
-
Cardiac dysfunction in children with mulibrey nanism
-
Eerola A, Pihkala JI, Karlberg N, Lipsanen-Nyman M, Jokinen E. 2007. Cardiac dysfunction in children with mulibrey nanism. Pediatr Cardiol 28:155-162.
-
(2007)
Pediatr Cardiol
, vol.28
, pp. 155-162
-
-
Eerola, A.1
Pihkala, J.I.2
Karlberg, N.3
Lipsanen-Nyman, M.4
Jokinen, E.5
-
43
-
-
0031869209
-
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome
-
Eggermann T, Eggermann K, Mergenthaler S, Kuner R, Kaiser P, Ranke MB, Wollmann HA. 1998. Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. J Med Genet 35:784-786.
-
(1998)
J Med Genet
, vol.35
, pp. 784-786
-
-
Eggermann, T.1
Eggermann, K.2
Mergenthaler, S.3
Kuner, R.4
Kaiser, P.5
Ranke, M.B.6
Wollmann, H.A.7
-
44
-
-
30644459349
-
Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
-
Eggermann T, Meyer E, Obermann C, Heil I, Schüler H, Ranke MB, Eggermann K, Wollmann HA. 2005. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet 42:e26.
-
(2005)
J Med Genet
, vol.42
-
-
Eggermann, T.1
Meyer, E.2
Obermann, C.3
Heil, I.4
Schüler, H.5
Ranke, M.B.6
Eggermann, K.7
Wollmann, H.A.8
-
45
-
-
33745903915
-
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain
-
Eggermann T, Schönherr N, Meyer E, Obermann C, Mavany M, Eggermann K, Ranke MB, Wollmann HA. 2006. Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. J Med Genet 43:615-616.
-
(2006)
J Med Genet
, vol.43
, pp. 615-616
-
-
Eggermann, T.1
Schönherr, N.2
Meyer, E.3
Obermann, C.4
Mavany, M.5
Eggermann, K.6
Ranke, M.B.7
Wollmann, H.A.8
-
46
-
-
41149121472
-
Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome
-
Eggermann T, Eggermann K, Schönherr N. 2008a. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet 24:195-204.
-
(2008)
Trends Genet
, vol.24
, pp. 195-204
-
-
Eggermann, T.1
Eggermann, K.2
Schönherr, N.3
-
47
-
-
37249069897
-
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
-
Eggermann T, Schönherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G. 2008b. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. Clin Genet 73:79-84.
-
(2008)
Clin Genet
, vol.73
, pp. 79-84
-
-
Eggermann, T.1
Schönherr, N.2
Eggermann, K.3
Buiting, K.4
Ranke, M.B.5
Wollmann, H.A.6
Binder, G.7
-
48
-
-
0029814277
-
Molecular genetics of Bloom's syndrome
-
Ellis NA, German J. 1996. Molecular genetics of Bloom's syndrome. Hum Mol Genet 5:1457-1463.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1457-1463
-
-
Ellis, N.A.1
German, J.2
-
49
-
-
0028785586
-
The Bloom's syndrome gene product is homologous to RecQ helicases
-
Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J. 1995. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83:655-666.
-
(1995)
Cell
, vol.83
, pp. 655-666
-
-
Ellis, N.A.1
Groden, J.2
Ye, T.Z.3
Straughen, J.4
Lennon, D.J.5
Ciocci, S.6
Proytcheva, M.7
German, J.8
-
50
-
-
12344252891
-
The association of maternal growth and socio-economic measures with infant birthweight in four ethnic groups
-
Emanuel I, Kimpo C, Moceri V. 2004. The association of maternal growth and socio-economic measures with infant birthweight in four ethnic groups. Int J Epidemiol 33:1236-1242.
-
(2004)
Int J Epidemiol
, vol.33
, pp. 1236-1242
-
-
Emanuel, I.1
Kimpo, C.2
Moceri, V.3
-
51
-
-
0017799416
-
Phenotypic and genetic analysis of the Silver-Russell syndrome
-
Escobar V, Gleiser S, Weaver DD. 1978. Phenotypic and genetic analysis of the Silver-Russell syndrome. Clin Genet 13:278-288.
-
(1978)
Clin Genet
, vol.13
, pp. 278-288
-
-
Escobar, V.1
Gleiser, S.2
Weaver, D.D.3
-
52
-
-
18644367647
-
Clinical and genetic heterogeneity of Seckel syndrome
-
Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V., 2002. Clinical and genetic heterogeneity of Seckel syndrome. Am J Med Genet 112:379-383.
-
(2002)
Am J Med Genet
, vol.112
, pp. 379-383
-
-
Faivre, L.1
Le Merrer, M.2
Lyonnet, S.3
Plauchu, H.4
Dagoneau, N.5
Campos-Xavier, A.B.6
Attia-Sobol, J.7
Verloes, A.8
Munnich, A.9
Cormier-Daire, V.10
-
53
-
-
33646939116
-
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome
-
Feingold M. 2006. Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. Am J Med Genet Part A 140A:782-784.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 782-784
-
-
Feingold, M.1
-
54
-
-
57649138478
-
Supratentorial juvenile pilocytic astrocytoma in a young adult with Silver-Russell syndrome
-
Fenton E, Refai D, See W, Rawluk DJ. 2008. Supratentorial juvenile pilocytic astrocytoma in a young adult with Silver-Russell syndrome. Br J Neurosurg 22:776-777.
-
(2008)
Br J Neurosurg
, vol.22
, pp. 776-777
-
-
Fenton, E.1
Refai, D.2
See, W.3
Rawluk, D.J.4
-
55
-
-
33751113031
-
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
-
Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K. 2006. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 79:965-972.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 965-972
-
-
Feuk, L.1
Kalervo, A.2
Lipsanen-Nyman, M.3
Skaug, J.4
Nakabayashi, K.5
Finucane, B.6
Hartung, D.7
Innes, M.8
Kerem, B.9
Nowaczyk, M.J.10
Rivlin, J.11
Roberts, W.12
Senman, L.13
Summers, A.14
Szatmari, P.15
Wong, V.16
Vincent, J.B.17
Zeesman, S.18
Osborne, L.R.19
Cardy, J.O.20
Kere, J.21
Scherer, S.W.22
Hannula-Jouppi, K.23
more..
-
56
-
-
23944435854
-
Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Res A Clin Mol
-
Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC. 2005. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Res A Clin Mol Teratol 73:577-582.
-
(2005)
Teratol
, vol.73
, pp. 577-582
-
-
Font-Montgomery, E.1
Stone, K.M.2
Weaver, D.D.3
Vance, G.H.4
Das, S.5
Thurston, V.C.6
-
57
-
-
0030049699
-
Fetal growth and cardiovascular risk factors in Jamaican schoolchildren
-
Forrester TE, Wilks RJ, Bennett FI, Simeon D, Osmond C, Allen M, Chung AP, Scott P. 1996. Fetal growth and cardiovascular risk factors in Jamaican schoolchildren. BMJ 312:156-160.
-
(1996)
BMJ
, vol.312
, pp. 156-160
-
-
Forrester, T.E.1
Wilks, R.J.2
Bennett, F.I.3
Simeon, D.4
Osmond, C.5
Allen, M.6
Chung, A.P.7
Scott, P.8
-
58
-
-
0033527727
-
Nongenomic transmission across generations of maternal behavior and stress responses in the rat
-
Francis D, Diorio J, Liu D, Meaney MJ. 1999. Nongenomic transmission across generations of maternal behavior and stress responses in the rat. Science 286:1155-1158.
-
(1999)
Science
, vol.286
, pp. 1155-1158
-
-
Francis, D.1
Diorio, J.2
Liu, D.3
Meaney, M.J.4
-
59
-
-
33845662610
-
Growth retardation alters the epigenetic characteristics of hepatic dual specificity phosphatase 5
-
Fu Q, McKnight RA, Yu X, Callaway CW, Lane RH. 2006. Growth retardation alters the epigenetic characteristics of hepatic dual specificity phosphatase 5. FASEB J 20:2127-2129.
-
(2006)
FASEB J
, vol.20
, pp. 2127-2129
-
-
Fu, Q.1
McKnight, R.A.2
Yu, X.3
Callaway, C.W.4
Lane, R.H.5
-
61
-
-
0001004927
-
Bloom's syndrome: Incidence, age of onset, and types of leukemia in the Bloom's syndrome registry
-
Bartsocas CS, Loukopoulos D, editors, Washington, DC: Hemistphere Publishers
-
German J. Bloom's syndrome: Incidence, age of onset, and types of leukemia in the Bloom's syndrome registry. In: Bartsocas CS, Loukopoulos D, editors. Genetics of hematological disorders. Washington, DC: Hemistphere Publishers. 1992. pp 241-258.
-
(1992)
Genetics of hematological disorders
, pp. 241-258
-
-
German, J.1
-
62
-
-
25144454048
-
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
-
Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. 2005. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 37:1003-1007.
-
(2005)
Nat Genet
, vol.37
, pp. 1003-1007
-
-
Gicquel, C.1
Rossignol, S.2
Cabrol, S.3
Houang, M.4
Steunou, V.5
Barbu, V.6
Danton, F.7
Thibaud, N.8
Le Merrer, M.9
Burglen, L.10
Bertrand, A.M.11
Netchine, I.12
Le Bouc, Y.13
-
63
-
-
0004210529
-
-
8th edition. Sunderland, MA: Sinauer Associates, Inc, Publishers
-
Gilbert SF. 2006. Developmental biology, 8th edition. Sunderland, MA: Sinauer Associates, Inc., Publishers.
-
(2006)
Developmental biology
-
-
Gilbert, S.F.1
-
66
-
-
46449087037
-
Effects of in utero and early-life conditions on adult health and disease
-
Gluckman P, Hanson M, Cooper C, Thornberg K. 2008. Effects of in utero and early-life conditions on adult health and disease. N Engl J Med 359:61-73.
-
(2008)
N Engl J Med
, vol.359
, pp. 61-73
-
-
Gluckman, P.1
Hanson, M.2
Cooper, C.3
Thornberg, K.4
-
67
-
-
0016823593
-
Malformation syndromes.Aselected miscellany
-
Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ Jr. 1975. Malformation syndromes.Aselected miscellany. Birth Defects Orig Artic Ser 11:39-50.
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 39-50
-
-
Gorlin, R.J.1
Cervenka, J.2
Moller, K.3
Horrobin, M.4
Witkop Jr., C.J.5
-
69
-
-
38649092988
-
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
-
Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M. 2008. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 40:232-236.
-
(2008)
Nat Genet
, vol.40
, pp. 232-236
-
-
Griffith, E.1
Walker, S.2
Martin, C.A.3
Vagnarelli, P.4
Stiff, T.5
Vernay, B.6
Al Sanna, N.7
Saggar, A.8
Hamel, B.9
Earnshaw, W.C.10
Jeggo, P.A.11
Jackson, A.P.12
O'Driscoll, M.13
-
70
-
-
0031918025
-
SHORT syndrome: Distinctive radiographic features
-
Haan E, Morris L. 1998. SHORT syndrome: Distinctive radiographic features. Clin Dysmorphol 7:103-107.
-
(1998)
Clin Dysmorphol
, vol.7
, pp. 103-107
-
-
Haan, E.1
Morris, L.2
-
71
-
-
4344631651
-
Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings
-
Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI. 2004. Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings. Am J Med Genet Part A 130A:55-72.
-
(2004)
Am J Med Genet
, vol.130 A
, Issue.PART A
, pp. 55-72
-
-
Hall, J.G.1
Flora, C.2
Scott Jr, C.I.3
Pauli, R.M.4
Tanaka, K.I.5
-
72
-
-
0003744429
-
-
2nd edition. New York, NY: Oxford University Press
-
Hall JG, Allanson J, Gripp KW, Slavotinek AM. 2007. Handbook of Physical Measurements, 2nd edition. New York, NY: Oxford University Press.
-
(2007)
Handbook of Physical Measurements
-
-
Hall, J.G.1
Allanson, J.2
Gripp, K.W.3
Slavotinek, A.M.4
-
73
-
-
33750986840
-
Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey namism
-
Hämäläinen RH, Mowat D, Gabbett MT, O'Brien TA, Kallijärvi J, Lehesjoki AE. 2006. Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey namism. Clin Genet 70:473-479.
-
(2006)
Clin Genet
, vol.70
, pp. 473-479
-
-
Hämäläinen, R.H.1
Mowat, D.2
Gabbett, M.T.3
O'Brien, T.A.4
Kallijärvi, J.5
Lehesjoki, A.E.6
-
74
-
-
0035058522
-
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
-
Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M. 2001. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 38:273-278.
-
(2001)
J Med Genet
, vol.38
, pp. 273-278
-
-
Hannula, K.1
Kere, J.2
Pirinen, S.3
Holmberg, C.4
Lipsanen-Nyman, M.5
-
75
-
-
0028938884
-
Dubowitz syndrome: Long-term follow-up of an original patient
-
Hansen KE, Kirkpatrick SJ, Laxova R. 1995. Dubowitz syndrome: Long-term follow-up of an original patient. Am J Med Genet 55:161-164.
-
(1995)
Am J Med Genet
, vol.55
, pp. 161-164
-
-
Hansen, K.E.1
Kirkpatrick, S.J.2
Laxova, R.3
-
76
-
-
66749123110
-
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1
-
Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE. 2009. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet 84:801-806.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 801-806
-
-
Hanson, D.1
Murray, P.G.2
Sud, A.3
Temtamy, S.A.4
Aglan, M.5
Superti-Furga, A.6
Holder, S.E.7
Urquhart, J.8
Hilton, E.9
Manson, F.D.10
Scambler, P.11
Black, G.C.12
Clayton, P.E.13
-
77
-
-
0036821820
-
A 4-Mb critical region for intrauterine growth retardation at 15q26
-
Harada N, Shimokawa O, Nagai T, Kato R, Kondoh T, Niikawa N, Matsumoto N. 2002. A 4-Mb critical region for intrauterine growth retardation at 15q26. Clin Genet 62:340-342.
-
(2002)
Clin Genet
, vol.62
, pp. 340-342
-
-
Harada, N.1
Shimokawa, O.2
Nagai, T.3
Kato, R.4
Kondoh, T.5
Niikawa, N.6
Matsumoto, N.7
-
78
-
-
0023616124
-
Further delineation of the 3-M syndrome with review of the literature
-
Hennekam RC, Bijlsma JB, Spranger J. 1987. Further delineation of the 3-M syndrome with review of the literature. Am J Med Genet 28:195-209.
-
(1987)
Am J Med Genet
, vol.28
, pp. 195-209
-
-
Hennekam, R.C.1
Bijlsma, J.B.2
Spranger, J.3
-
80
-
-
0035131431
-
Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome
-
Hitchins MP, Monk D, Bell GM, Ali Z, Preece MA, Stanier P, Moore GE. 2001a. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. Eur J Hum Genet 9:82-90.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 82-90
-
-
Hitchins, M.P.1
Monk, D.2
Bell, G.M.3
Ali, Z.4
Preece, M.A.5
Stanier, P.6
Moore, G.E.7
-
81
-
-
0035662379
-
Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions
-
Hitchins MP, Stanier P, Preece MA, Moore GE. 2001b. Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 38:810-819.
-
(2001)
J Med Genet
, vol.38
, pp. 810-819
-
-
Hitchins, M.P.1
Stanier, P.2
Preece, M.A.3
Moore, G.E.4
-
82
-
-
17944388851
-
Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q
-
Hitchins MP, Abu-Amero S, Apostolidou S, Monk D, Stanier P, Preece MA, Moore GE. 2002. Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q. J Med Genet 39:E13.
-
(2002)
J Med Genet
, vol.39
-
-
Hitchins, M.P.1
Abu-Amero, S.2
Apostolidou, S.3
Monk, D.4
Stanier, P.5
Preece, M.A.6
Moore, G.E.7
-
84
-
-
0013815591
-
Congenital asymmetry associated with trisomy 18 mosaicism
-
Hook EB, Yunis JJ. 1965. Congenital asymmetry associated with trisomy 18 mosaicism. Am J Dis Child 110:551-555.
-
(1965)
Am J Dis Child
, vol.110
, pp. 551-555
-
-
Hook, E.B.1
Yunis, J.J.2
-
85
-
-
48349145174
-
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype
-
Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. 2008. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype. Eur J Hum Genet 16:1019-1023.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1019-1023
-
-
Hosoki, K.1
Ogata, T.2
Kagami, M.3
Tanaka, T.4
Saitoh, S.5
-
86
-
-
27144498420
-
Identification of mutations in CUL7 in 3-M syndrome
-
Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. 2005. Identification of mutations in CUL7 in 3-M syndrome. Nat Genet 37:1119-1124.
-
(2005)
Nat Genet
, vol.37
, pp. 1119-1124
-
-
Huber, C.1
Dias-Santagata, D.2
Glaser, A.3
O'Sullivan, J.4
Brauner, R.5
Wu, K.6
Xu, X.7
Pearce, K.8
Wang, R.9
Uzielli, M.L.10
Dagoneau, N.11
Chemaitilly, W.12
Superti-Furga, A.13
Dos Santos, H.14
Mégarbané, A.15
Morin, G.16
Gillessen-Kaesbach, G.17
Hennekam, R.18
Van der Burgt, I.19
Black, G.C.20
Clayton, P.E.21
Read, A.22
Le Merrer, M.23
Scambler, P.J.24
Munnich, A.25
Pan, Z.Q.26
Winter, R.27
Cormier-Daire, V.28
more..
-
87
-
-
60749135834
-
-
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. 2009. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet 17:395-400.
-
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. 2009. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet 17:395-400.
-
-
-
-
88
-
-
0025319507
-
Dubowitz syndrome: Possible evidence for a clinical subtype
-
Ilyina HG, Lurie IW. 1990. Dubowitz syndrome: Possible evidence for a clinical subtype. Am J Med Genet 35:561-565.
-
(1990)
Am J Med Genet
, vol.35
, pp. 561-565
-
-
Ilyina, H.G.1
Lurie, I.W.2
-
89
-
-
0037565126
-
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity
-
Jagiello P, Hammans C, Wieczorek S, Arning L, Stefanski A, Strehl H, Epplen JT, Gencik M. 2003. A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. Hum Mutat 21:630-635.
-
(2003)
Hum Mutat
, vol.21
, pp. 630-635
-
-
Jagiello, P.1
Hammans, C.2
Wieczorek, S.3
Arning, L.4
Stefanski, A.5
Strehl, H.6
Epplen, J.T.7
Gencik, M.8
-
91
-
-
0032803431
-
Case report on SHORT syndrome
-
Joo SH, Raygada M, Gibney S, Farzaneh I, Rennert OM. 1999. Case report on SHORT syndrome. Clin Dysmorphol 8:219-221.
-
(1999)
Clin Dysmorphol
, vol.8
, pp. 219-221
-
-
Joo, S.H.1
Raygada, M.2
Gibney, S.3
Farzaneh, I.4
Rennert, O.M.5
-
92
-
-
0032846736
-
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
-
Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK. 1999. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet 105:273-280.
-
(1999)
Hum Genet
, vol.105
, pp. 273-280
-
-
Joyce, C.A.1
Sharp, A.2
Walker, J.M.3
Bullman, H.4
Temple, I.K.5
-
93
-
-
0036862451
-
Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period
-
Kaati G, Bygren LO, Edvinsson S. 2002. Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period. Eur J Hum Genet 10:682-688.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 682-688
-
-
Kaati, G.1
Bygren, L.O.2
Edvinsson, S.3
-
94
-
-
34247395327
-
Silver-Russell syndrome in a girl born after in vitro fertilization: Partial hypermethylation at the differentially methylated region of PEG1/MEST
-
Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T. 2007. Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. J Assist Reprod Genet 24:131-136.
-
(2007)
J Assist Reprod Genet
, vol.24
, pp. 131-136
-
-
Kagami, M.1
Nagai, T.2
Fukami, M.3
Yamazawa, K.4
Ogata, T.5
-
95
-
-
16444362792
-
In vitro fertilization (IFV) in Sweden: Risk for congenital malformations after different IVF methods. Birth Defects Res A Clin Mol
-
Kallen B, Finnstrom O, Nygren KG, Olausson PO. 2005. In vitro fertilization (IFV) in Sweden: Risk for congenital malformations after different IVF methods. Birth Defects Res A Clin Mol Teratol 73:162-169.
-
(2005)
Teratol
, vol.73
, pp. 162-169
-
-
Kallen, B.1
Finnstrom, O.2
Nygren, K.G.3
Olausson, P.O.4
-
96
-
-
0036235857
-
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: Classification of mulibrey nanism as a new peroxisomal disorder
-
Kallijärvi J, Avela K, Lipsanen-Nyman M, Ulmanen I, Lehesjoki A-E. 2002. The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: Classification of mulibrey nanism as a new peroxisomal disorder. Am J Hum Genet 70:1215-1228.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1215-1228
-
-
Kallijärvi, J.1
Avela, K.2
Lipsanen-Nyman, M.3
Ulmanen, I.4
Lehesjoki, A.-E.5
-
97
-
-
3042767201
-
Microcephalic osteodysplastic primordial dwarfism type II: A child with cafe au lait lesions, cutis marmorata, and moyamoya disease
-
Kannu P, Kelly P, Aftimos S. 2004. Microcephalic osteodysplastic primordial dwarfism type II: A child with cafe au lait lesions, cutis marmorata, and moyamoya disease. Am J Med Genet Part A 128A:98-100.
-
(2004)
Am J Med Genet
, vol.128 A
, Issue.PART A
, pp. 98-100
-
-
Kannu, P.1
Kelly, P.2
Aftimos, S.3
-
98
-
-
4644292222
-
Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
-
Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V. 2004. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome. Am J Med Genet Part A 130A:181-190.
-
(2004)
Am J Med Genet
, vol.130 A
, Issue.PART A
, pp. 181-190
-
-
Kantaputra, P.N.1
Tanpaiboon, P.2
Unachak, K.3
Praphanphoj, V.4
-
99
-
-
33645322645
-
Fetal programming of hypothalamo-pituitary-adrenal function: Prenatal stress and glucocorticoids
-
Kapoor A, Dunn E, Kostaki A, Andrews MH, Matthews SG. 2006. Fetal programming of hypothalamo-pituitary-adrenal function: Prenatal stress and glucocorticoids. J Physiol 572:31-44.
-
(2006)
J Physiol
, vol.572
, pp. 31-44
-
-
Kapoor, A.1
Dunn, E.2
Kostaki, A.3
Andrews, M.H.4
Matthews, S.G.5
-
102
-
-
34447121886
-
Growth and growth hormone therapy in subjects with mulibrey nanism
-
Karlberg N, Jalanko H, Lipsanen-Nyman M. 2007. Growth and growth hormone therapy in subjects with mulibrey nanism. Pediatrics 120:e102-e111.
-
(2007)
Pediatrics
, vol.120
-
-
Karlberg, N.1
Jalanko, H.2
Lipsanen-Nyman, M.3
-
104
-
-
0035575838
-
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients
-
Kobayashi S, Uemura H, Kohda T, Nagai T, Chinen Y, Naritomi K, Kinoshita EI, Ohashi H, Imaizumi K, Tsukahara M, Sugio Y, Tonoki H, Kishino T, Tanaka T, Yamada M, Tsutsumi O, Niikawa N, Kaneko-Ishino T, Ishino F. 2001. No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. Am J Med Genet 104:225-231.
-
(2001)
Am J Med Genet
, vol.104
, pp. 225-231
-
-
Kobayashi, S.1
Uemura, H.2
Kohda, T.3
Nagai, T.4
Chinen, Y.5
Naritomi, K.6
Kinoshita, E.I.7
Ohashi, H.8
Imaizumi, K.9
Tsukahara, M.10
Sugio, Y.11
Tonoki, H.12
Kishino, T.13
Tanaka, T.14
Yamada, M.15
Tsutsumi, O.16
Niikawa, N.17
Kaneko-Ishino, T.18
Ishino, F.19
-
106
-
-
0028914364
-
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
-
Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K, Hamel BC, Otten BJ, Hergersberg M, Werder E, Schoenle E, Schinzel A. 1995. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4:583-587.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 583-587
-
-
Kotzot, D.1
Schmitt, S.2
Bernasconi, F.3
Robinson, W.P.4
Lurie, I.W.5
Ilyina, H.6
Méhes, K.7
Hamel, B.C.8
Otten, B.J.9
Hergersberg, M.10
Werder, E.11
Schoenle, E.12
Schinzel, A.13
-
107
-
-
0034113750
-
Maternal uniparental disomy 7 - Review and further delineation of the phenotype
-
Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. 2000. Maternal uniparental disomy 7 - Review and further delineation of the phenotype. Eur J Pediatr 159:247-256.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 247-256
-
-
Kotzot, D.1
Balmer, D.2
Baumer, A.3
Chrzanowska, K.4
Hamel, B.C.5
Ilyina, H.6
Krajewska-Walasek, M.7
Lurie, I.W.8
Otten, B.J.9
Schoenle, E.10
Tariverdian, G.11
Schinzel, A.12
-
109
-
-
0029154367
-
Floating-Harbor syndrome: Description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance
-
Lacombe D, Patton MA, Elleau C, Battin J. 1995. Floating-Harbor syndrome: Description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. Eur J Pediatr 154:658-661.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 658-661
-
-
Lacombe, D.1
Patton, M.A.2
Elleau, C.3
Battin, J.4
-
110
-
-
0028800581
-
Mulibrey nanism: Three additional patients and a review of 39 patients
-
Lapunzina P, Rodríguez JI, de Matteo E, Garcia R, Moreno F. 1995. Mulibrey nanism: Three additional patients and a review of 39 patients. Am J Med Genet 55:349-355.
-
(1995)
Am J Med Genet
, vol.55
, pp. 349-355
-
-
Lapunzina, P.1
Rodríguez, J.I.2
de Matteo, E.3
Garcia, R.4
Moreno, F.5
-
111
-
-
0035097663
-
Body size at birth and blood pressure among children in developing countries
-
Law CM, Egger P, Dada O, Delgado H, Kylberg E, Lavin P, Tang GH, von Hertzen H, Shiell AW, Barker DJ. 2001. Body size at birth and blood pressure among children in developing countries. Int J Epidemiol 30:52-57.
-
(2001)
Int J Epidemiol
, vol.30
, pp. 52-57
-
-
Law, C.M.1
Egger, P.2
Dada, O.3
Delgado, H.4
Kylberg, E.5
Lavin, P.6
Tang, G.H.7
von Hertzen, H.8
Shiell, A.W.9
Barker, D.J.10
-
112
-
-
0026078650
-
Dwarfism with gloomy face: A new syndrome with features of 3-M syndrome
-
Le Merrer M, Brauner R, Maroteaux P. 1991. Dwarfism with gloomy face: A new syndrome with features of 3-M syndrome. J Med Genet 28:186-191.
-
(1991)
J Med Genet
, vol.28
, pp. 186-191
-
-
Le Merrer, M.1
Brauner, R.2
Maroteaux, P.3
-
114
-
-
0024403369
-
The SHORT syndrome: Further delineation and natural history
-
Lipson AH, Cowell C, Gorlin RJ. 1989. The SHORT syndrome: Further delineation and natural history. J Med Genet 26:473-475.
-
(1989)
J Med Genet
, vol.26
, pp. 473-475
-
-
Lipson, A.H.1
Cowell, C.2
Gorlin, R.J.3
-
115
-
-
0026520138
-
Decreased birthweights in infants after maternal in utero exposure to the Dutch famine of 1944-1945
-
Lumey LH. 1992. Decreased birthweights in infants after maternal in utero exposure to the Dutch famine of 1944-1945. Paediatr Perinat Epidemiol 6:240-253.
-
(1992)
Paediatr Perinat Epidemiol
, vol.6
, pp. 240-253
-
-
Lumey, L.H.1
-
116
-
-
0020036950
-
Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism.Am
-
Majewski F, Ranke M, Schinzel A. 1982. Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism.Am J Med Genet 12:23-35.
-
(1982)
J Med Genet
, vol.12
, pp. 23-35
-
-
Majewski, F.1
Ranke, M.2
Schinzel, A.3
-
117
-
-
37249033121
-
Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: New population isolate in Asia
-
Maksimova N, Hara K, Miyashia A, Nikolaeva I, Shiga A, Nogovicina A, Sukhomyasova A, Argunov V, Shvedova A, Ikeuchi T, Nishizawa M, Kuwano R, Onodera O. 2007. Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: New population isolate in Asia. J Med Genet 44:772-778.
-
(2007)
J Med Genet
, vol.44
, pp. 772-778
-
-
Maksimova, N.1
Hara, K.2
Miyashia, A.3
Nikolaeva, I.4
Shiga, A.5
Nogovicina, A.6
Sukhomyasova, A.7
Argunov, V.8
Shvedova, A.9
Ikeuchi, T.10
Nishizawa, M.11
Kuwano, R.12
Onodera, O.13
-
118
-
-
23044446596
-
Epigenetic drift in aging identical twins
-
Martin GM. 2005. Epigenetic drift in aging identical twins. Proc Natl Acad Sci USA 102:10413-10414.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 10413-10414
-
-
Martin, G.M.1
-
119
-
-
0034816108
-
Evidence against GRB10 as the gene responsible for Silver-Russell syndrome
-
McCann JA, Zheng H, Islam A, Goodyer CG, Polychronakos C. 2001. Evidence against GRB10 as the gene responsible for Silver-Russell syndrome. Biochem Biophys Res Commun 286:943-948.
-
(2001)
Biochem Biophys Res Commun
, vol.286
, pp. 943-948
-
-
McCann, J.A.1
Zheng, H.2
Islam, A.3
Goodyer, C.G.4
Polychronakos, C.5
-
120
-
-
15544369982
-
Developmental origins of the metabolic syndrome: Prediction, plasticity, and programming
-
McMillen IC, Robinson JS. 2005. Developmental origins of the metabolic syndrome: Prediction, plasticity, and programming. Physiol Rev 85:571-633.
-
(2005)
Physiol Rev
, vol.85
, pp. 571-633
-
-
McMillen, I.C.1
Robinson, J.S.2
-
121
-
-
0027321271
-
Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
-
Midro AT, Debek K, Sawicka A, Marcinkiewicz D, Rogowska M. 1993. Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. Clin Genet 44:53-55.
-
(1993)
Clin Genet
, vol.44
, pp. 53-55
-
-
Midro, A.T.1
Debek, K.2
Sawicka, A.3
Marcinkiewicz, D.4
Rogowska, M.5
-
122
-
-
0030664598
-
Floating Harbor syndrome. Case report and further syndrome delineation
-
Midro AT, Olchowik B, Rogowska M, Hubert E, Hassman-Poznañska E, Papasz A, Szulc S, Wioeniewski A. 1997. Floating Harbor syndrome. Case report and further syndrome delineation. Ann Genet 40:133-138.
-
(1997)
Ann Genet
, vol.40
, pp. 133-138
-
-
Midro, A.T.1
Olchowik, B.2
Rogowska, M.3
Hubert, E.4
Hassman-Poznañska, E.5
Papasz, A.6
Szulc, S.7
Wioeniewski, A.8
-
123
-
-
0016777025
-
The 3-M syndrome: A heritable low birth weight dwarfism
-
Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C. 1975. The 3-M syndrome: A heritable low birth weight dwarfism. Birth Defects Orig Artic Ser 11:39-47.
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 39-47
-
-
Miller, J.D.1
McKusick, V.A.2
Malvaux, P.3
Temtamy, S.4
Salinas, C.5
-
124
-
-
33749520007
-
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR
-
Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, Prott EC, Wieczorek D, Gillessen-Kaesbach G. 2006. Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet Part A 140A:2039-2049.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 2039-2049
-
-
Mitter, D.1
Buiting, K.2
von Eggeling, F.3
Kuechler, A.4
Liehr, T.5
Mau-Holzmann, U.A.6
Prott, E.C.7
Wieczorek, D.8
Gillessen-Kaesbach, G.9
-
125
-
-
0035062128
-
DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders
-
Mohaghegh P, Hickson ID. 2001. DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. Hum Mol Genet 10:741-746.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 741-746
-
-
Mohaghegh, P.1
Hickson, I.D.2
-
127
-
-
0036347619
-
Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome
-
Monk D, Bentley L, Beechey C, Hitchins M, Peters J, Preece MA, Stanier P, Moore GE. 2002a. Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome. J Med Genet 39:575-581.
-
(2002)
J Med Genet
, vol.39
, pp. 575-581
-
-
Monk, D.1
Bentley, L.2
Beechey, C.3
Hitchins, M.4
Peters, J.5
Preece, M.A.6
Stanier, P.7
Moore, G.E.8
-
128
-
-
0036820514
-
Chromosome 7p disruptions in Silver Russell syndrome: Delineating an imprinted candidate gene region
-
Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. 2002b. Chromosome 7p disruptions in Silver Russell syndrome: Delineating an imprinted candidate gene region. Hum Genet 111:376-387.
-
(2002)
Hum Genet
, vol.111
, pp. 376-387
-
-
Monk, D.1
Bentley, L.2
Hitchins, M.3
Myler, R.A.4
Clayton-Smith, J.5
Ismail, S.6
Price, S.M.7
Preece, M.A.8
Stanier, P.9
Moore, G.E.10
-
129
-
-
0029679865
-
Placental weight, birth measurements, and blood pressure at age 8 years
-
Moore VM, Miller AG, Boulton TJ, Cockington RA, Craig IH, Magarey AM, Robinson JS. 1996. Placental weight, birth measurements, and blood pressure at age 8 years. Arch Dis Child 74:538-541.
-
(1996)
Arch Dis Child
, vol.74
, pp. 538-541
-
-
Moore, V.M.1
Miller, A.G.2
Boulton, T.J.3
Cockington, R.A.4
Craig, I.H.5
Magarey, A.M.6
Robinson, J.S.7
-
130
-
-
0033401411
-
Prenatal or early postnatal events predict infectious deaths in young adulthood in rural Africa
-
Moore SE, Cole TJ, Collinson AC, Poskitt EM, McGregor IA, Prentice AM. 1999. Prenatal or early postnatal events predict infectious deaths in young adulthood in rural Africa. Int J Epidemiol 28:1088-1095.
-
(1999)
Int J Epidemiol
, vol.28
, pp. 1088-1095
-
-
Moore, S.E.1
Cole, T.J.2
Collinson, A.C.3
Poskitt, E.M.4
McGregor, I.A.5
Prentice, A.M.6
-
131
-
-
0026636075
-
The 3-M syndrome: Risk of intracerebral aneurysm?
-
Mueller RF, Buckler J, Arthur R, Bonsor G, Dear P, Walters K, Towns GM. 1992. The 3-M syndrome: Risk of intracerebral aneurysm? J Med Genet 29:425-427.
-
(1992)
J Med Genet
, vol.29
, pp. 425-427
-
-
Mueller, R.F.1
Buckler, J.2
Arthur, R.3
Bonsor, G.4
Dear, P.5
Walters, K.6
Towns, G.M.7
-
132
-
-
18244389962
-
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome
-
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. 2002. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics 79:186-196.
-
(2002)
Genomics
, vol.79
, pp. 186-196
-
-
Nakabayashi, K.1
Fernandez, B.A.2
Teshima, I.3
Shuman, C.4
Proud, V.K.5
Curry, C.J.6
Chitayat, D.7
Grebe, T.8
Ming, J.9
Oshimura, M.10
Meguro, M.11
Mitsuya, K.12
Deb-Rinker, P.13
Herbrick, J.A.14
Weksberg, R.15
Scherer, S.W.16
-
133
-
-
70349495295
-
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: Case report and observations from the literature
-
Nelson RA, McNamara M, Ellis W, Stein-Wexler R, Moghaddam B, Zwerdling T. 2009. Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. Am J Med Genet 149A:2265-2269.
-
(2009)
Am J Med Genet
, vol.149 A
, pp. 2265-2269
-
-
Nelson, R.A.1
McNamara, M.2
Ellis, W.3
Stein-Wexler, R.4
Moghaddam, B.5
Zwerdling, T.6
-
134
-
-
34547764390
-
1 Ipl5 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigenetic-phenotypic correlations
-
Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y. 2007. 1 Ipl5 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 92:3148-3154.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3148-3154
-
-
Netchine, I.1
Rossignol, S.2
Dufourg, M.N.3
Azzi, S.4
Rousseau, A.5
Perin, L.6
Houang, M.7
Steunou, V.8
Esteva, B.9
Thibaud, N.10
Demay, M.C.11
Danton, F.12
Petriczko, E.13
Bertrand, A.M.14
Heinrichs, C.15
Carel, J.C.16
Loeuille, G.A.17
Pinto, G.18
Jacquemont, M.L.19
Gicquel, C.20
Cabrol, S.21
Le Bouc, Y.22
more..
-
135
-
-
0031446544
-
Low birth weight is associated with elevated systolic blood pressure in adolescence: A prospective study of a birth cohort of 149378 Swedish boys
-
Nilsson PM, Ostergren PO, Nyberg P, Söderström M, Allebeck P. 1997. Low birth weight is associated with elevated systolic blood pressure in adolescence: A prospective study of a birth cohort of 149378 Swedish boys. J Hypertens 15:1627-1631.
-
(1997)
J Hypertens
, vol.15
, pp. 1627-1631
-
-
Nilsson, P.M.1
Ostergren, P.O.2
Nyberg, P.3
Söderström, M.4
Allebeck, P.5
-
136
-
-
0042320658
-
Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease
-
Nishimura G, Hasegawa T, Fujino M, Hori N, Tomita Y. 2003. Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease. Am J Med Genet Part A 117A:299-301.
-
(2003)
Am J Med Genet
, vol.117 A
, Issue.PART A
, pp. 299-301
-
-
Nishimura, G.1
Hasegawa, T.2
Fujino, M.3
Hori, N.4
Tomita, Y.5
-
137
-
-
38949194351
-
Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance
-
Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ. 2008. Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet Part A 146A:354-360.
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.PART A
, pp. 354-360
-
-
Nowaczyk, M.J.1
Carter, M.T.2
Xu, J.3
Huggins, M.4
Raca, G.5
Das, S.6
Martin, C.L.7
Schwartz, S.8
Rosenfield, R.9
Waggoner, D.J.10
-
139
-
-
0345073699
-
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
-
O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. 2003. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet 33:497-501.
-
(2003)
Nat Genet
, vol.33
, pp. 497-501
-
-
O'Driscoll, M.1
Ruiz-Perez, V.L.2
Woods, C.G.3
Jeggo, P.A.4
Goodship, J.A.5
-
140
-
-
75449119299
-
-
OMIM (Online Mendelian Inheritance in Man). 2009. http://www.ncbi.nlm. nih.gov/entrez/query.fcgi?db=OMIM.
-
OMIM (Online Mendelian Inheritance in Man). 2009. http://www.ncbi.nlm. nih.gov/entrez/query.fcgi?db=OMIM.
-
-
-
-
142
-
-
0026045068
-
Urethral valves in Russell-Silver syndrome
-
Ortiz C, Cleveland RH, Jaramillo D, Blickman JG, Crawford J. 1991. Urethral valves in Russell-Silver syndrome. J Pediatr 119:776-778.
-
(1991)
J Pediatr
, vol.119
, pp. 776-778
-
-
Ortiz, C.1
Cleveland, R.H.2
Jaramillo, D.3
Blickman, J.G.4
Crawford, J.5
-
143
-
-
21644459589
-
Two sisters with Silver-Russell phenotype
-
Õunap K, Reimand T, Mägi ML, Bartsch O. 2004. Two sisters with Silver-Russell phenotype. Am J Med Genet Part A 131A:301-306.
-
(2004)
Am J Med Genet
, vol.131 A
, Issue.PART A
, pp. 301-306
-
-
Õunap, K.1
Reimand, T.2
Mägi, M.L.3
Bartsch, O.4
-
144
-
-
14644396144
-
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II
-
Ozawa H, Takayama C, Nishida A, Nagai T, Nishimura G, Higurashi M. 2005. Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. Brain Dev 27:237-240.
-
(2005)
Brain Dev
, vol.27
, pp. 237-240
-
-
Ozawa, H.1
Takayama, C.2
Nishida, A.3
Nagai, T.4
Nishimura, G.5
Higurashi, M.6
-
145
-
-
55449105710
-
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome
-
Paluzzi A, Viva LJ, Kalsi P, Mukerji N, Tzerakis N, Patton MA. 2008. Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. Clin Dysmorphol 17:283-285.
-
(2008)
Clin Dysmorphol
, vol.17
, pp. 283-285
-
-
Paluzzi, A.1
Viva, L.J.2
Kalsi, P.3
Mukerji, N.4
Tzerakis, N.5
Patton, M.A.6
-
146
-
-
0018956225
-
The Dubowitz syndrome: The psychological status of cases at follow-up
-
Parrish JM, Wilroy RS Jr. 1980. The Dubowitz syndrome: The psychological status of cases at follow-up. Am J Med Genet 6:3-8.
-
(1980)
Am J Med Genet
, vol.6
, pp. 3-8
-
-
Parrish, J.M.1
Wilroy Jr., R.S.2
-
147
-
-
0026349029
-
Bloom's syndrome: The German experience
-
Passarge E. 1991. Bloom's syndrome: The German experience. Ann Genet 34:179-197.
-
(1991)
Ann Genet
, vol.34
, pp. 179-197
-
-
Passarge, E.1
-
148
-
-
0026092713
-
Syndrome of the month: Floating-Harbor syndrome
-
Patton MA, Hurst J, Donnai D, McKeown CME, Cole T, Goodship J. 1991. Syndrome of the month: Floating-Harbor syndrome. J Med Genet 28:201-204.
-
(1991)
J Med Genet
, vol.28
, pp. 201-204
-
-
Patton, M.A.1
Hurst, J.2
Donnai, D.3
McKeown, C.M.E.4
Cole, T.5
Goodship, J.6
-
149
-
-
0014890189
-
A case of trisomy 18 mosaicism with peculiar features
-
Pavone L, Zellweger H, Abbo G, Gauchat R, Knecht B. 1970. A case of trisomy 18 mosaicism with peculiar features. Humangenetik 11:29-34.
-
(1970)
Humangenetik
, vol.11
, pp. 29-34
-
-
Pavone, L.1
Zellweger, H.2
Abbo, G.3
Gauchat, R.4
Knecht, B.5
-
150
-
-
0015700213
-
-
Pelletier G, Feingold M. 1973. Case report 1. Synd Ident 1:8-9.
-
Pelletier G, Feingold M. 1973. Case report 1. Synd Ident 1:8-9.
-
-
-
-
151
-
-
0036861531
-
Time to take epigenetic inheritance seriously
-
Pembrey ME. 2002. Time to take epigenetic inheritance seriously. Eur J Hum Genet 10:669-671.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 669-671
-
-
Pembrey, M.E.1
-
152
-
-
0038355190
-
Mulibrey-nanism: Dwarfism with muscle, liver, brain and eye involvement
-
Perheentupa J, Autio S, Leisti S, Raitta C. 1970. Mulibrey-nanism: Dwarfism with muscle, liver, brain and eye involvement. Acta Paediatr Scand 50:74-75.
-
(1970)
Acta Paediatr Scand
, vol.50
, pp. 74-75
-
-
Perheentupa, J.1
Autio, S.2
Leisti, S.3
Raitta, C.4
-
153
-
-
0031872145
-
Long-term effects of the intrauterine environment, birth weight, and breast-feeding in Pima Indians
-
Pettitt DJ, Knowler WC. 1998. Long-term effects of the intrauterine environment, birth weight, and breast-feeding in Pima Indians. Diabetes Care 21:B138-B141.
-
(1998)
Diabetes Care
, vol.21
-
-
Pettitt, D.J.1
Knowler, W.C.2
-
154
-
-
0142084634
-
Uteroplacental insufficiency increases apoptosis and alters p53 gene methylation in the full-term IUGR rat kidney
-
Pham TD, MacLennan NK, Chiu CT, Laksana GS, Hsu JL, Lane RH. 2003. Uteroplacental insufficiency increases apoptosis and alters p53 gene methylation in the full-term IUGR rat kidney. Am J Physiol Regul Integr Comp Physiol 285:R962-R970.
-
(2003)
Am J Physiol Regul Integr Comp Physiol
, vol.285
-
-
Pham, T.D.1
MacLennan, N.K.2
Chiu, C.T.3
Laksana, G.S.4
Hsu, J.L.5
Lane, R.H.6
-
155
-
-
0031036341
-
Maternal uniparental disomy 7 in Silver-Russell syndrome
-
Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE. 1997. Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 34:6-9.
-
(1997)
J Med Genet
, vol.34
, pp. 6-9
-
-
Preece, M.A.1
Price, S.M.2
Davies, V.3
Clough, L.4
Stanier, P.5
Trembath, R.C.6
Moore, G.E.7
-
156
-
-
0032758850
-
The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
-
Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. 1999. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria. J Med Genet 36:837-842.
-
(1999)
J Med Genet
, vol.36
, pp. 837-842
-
-
Price, S.M.1
Stanhope, R.2
Garrett, C.3
Preece, M.A.4
Trembath, R.C.5
-
157
-
-
0038161217
-
The role of phenotypic plasticity in driving genetic evolution
-
Price TD, Qvarnström A, Irwin DE. 2003. The role of phenotypic plasticity in driving genetic evolution. Proc Biol Sci 270:1433-1440.
-
(2003)
Proc Biol Sci
, vol.270
, pp. 1433-1440
-
-
Price, T.D.1
Qvarnström, A.2
Irwin, D.E.3
-
158
-
-
42649101672
-
MSMLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
-
Priolo M, Sparago A, Mammì C, Cerrato F, Laganà C, Riccio A. 2008. MSMLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment. Eur J Hum Genet 16:565-571.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 565-571
-
-
Priolo, M.1
Sparago, A.2
Mammì, C.3
Cerrato, F.4
Laganà, C.5
Riccio, A.6
-
159
-
-
38949087294
-
Mutations in the pericentrin (PCNT) gene cause primoridal dwarfism
-
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A. 2008. Mutations in the pericentrin (PCNT) gene cause primoridal dwarfism. Science 319:816-819.
-
(2008)
Science
, vol.319
, pp. 816-819
-
-
Rauch, A.1
Thiel, C.T.2
Schindler, D.3
Wick, U.4
Crow, Y.J.5
Ekici, A.B.6
van Essen, A.J.7
Goecke, T.O.8
Al-Gazali, L.9
Chrzanowska, K.H.10
Zweier, C.11
Brunner, H.G.12
Becker, K.13
Curry, C.J.14
Dallapiccola, B.15
Devriendt, K.16
Dörfler, A.17
Kinning, E.18
Megarbane, A.19
Meinecke, P.20
Semple, R.K.21
Spranger, S.22
Toutain, A.23
Trembath, R.C.24
Voss, E.25
Wilson, L.26
Hennekam, R.27
de Zegher, F.28
Dörr, H.G.29
Reis, A.30
more..
-
160
-
-
0032716565
-
Obesity at the age of 50 y in men and women exposed to famine prenatally
-
Ravelli AC, van Der Meulen JH, Osmond C, Barker DJ, Bleker OP. 1999. Obesity at the age of 50 y in men and women exposed to famine prenatally. Am J Clin Nutr 70:811-816.
-
(1999)
Am J Clin Nutr
, vol.70
, pp. 811-816
-
-
Ravelli, A.C.1
van Der Meulen, J.H.2
Osmond, C.3
Barker, D.J.4
Bleker, O.P.5
-
161
-
-
42949179688
-
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome
-
Reardon W, Temple IK. 2008. Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. Am J Med Genet Part A 146A:1296-1298.
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.PART A
, pp. 1296-1298
-
-
Reardon, W.1
Temple, I.K.2
-
162
-
-
0032789471
-
Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation
-
Roa BB, Savino CV, Richards CS. 1999. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test 3:219-221.
-
(1999)
Genet Test
, vol.3
, pp. 219-221
-
-
Roa, B.B.1
Savino, C.V.2
Richards, C.S.3
-
163
-
-
0030003708
-
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes
-
Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG. 1996. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet 62:10-15.
-
(1996)
Am J Med Genet
, vol.62
, pp. 10-15
-
-
Rogan, P.K.1
Seip, J.R.2
Driscoll, D.J.3
Papenhausen, P.R.4
Johnson, V.P.5
Raskin, S.6
Woodward, A.L.7
Butler, M.G.8
-
164
-
-
0032420455
-
A further report on a case of Floating-Harbor Syndrome in a mother and daughter
-
Rosen AC, Newby RF, Sauer CM, Lacey T, Hammeke TA, Lubinsky MS. 1998. A further report on a case of Floating-Harbor Syndrome in a mother and daughter. J Clin Exp Neuropsychol 20:483-495.
-
(1998)
J Clin Exp Neuropsychol
, vol.20
, pp. 483-495
-
-
Rosen, A.C.1
Newby, R.F.2
Sauer, C.M.3
Lacey, T.4
Hammeke, T.A.5
Lubinsky, M.S.6
-
166
-
-
0000771975
-
A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples)
-
Russell A. 1954. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 47:1040-1044.
-
(1954)
Proc R Soc Med
, vol.47
, pp. 1040-1044
-
-
Russell, A.1
-
167
-
-
0033935846
-
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression
-
Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L. 2000. Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression. Clin Dysmorphol 9:157-162.
-
(2000)
Clin Dysmorphol
, vol.9
, pp. 157-162
-
-
Russo, S.1
Bedeschi, M.F.2
Cogliati, F.3
Natacci, F.4
Gianotti, A.5
Parini, R.6
Selicorni, A.7
Larizza, L.8
-
168
-
-
54549122160
-
-
SACN/RCPCH Expert Group on Growth Standards, accessed Aug 24, 2007
-
SACN/RCPCH Expert Group on Growth Standards. 2007. Application of the WHO growth standards in the UK, http://www.sacn.gov.uk/pdfs/report-growth- standards-2007-08-10.pdf (accessed Aug 24, 2007).
-
(2007)
Application of the WHO growth standards in the UK
-
-
-
169
-
-
0025186103
-
Monozygotic twins discordant for the Russell-Silver syndrome
-
Samn M, Lewis K, Blumberg B. 1990. Monozygotic twins discordant for the Russell-Silver syndrome. Am J Med Genet 37:543-545.
-
(1990)
Am J Med Genet
, vol.37
, pp. 543-545
-
-
Samn, M.1
Lewis, K.2
Blumberg, B.3
-
170
-
-
0028273980
-
An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features
-
Schinzel AA, Robinson WP, Binkert F, Fanconi A. 1994. An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. Clin Dysmorphol 3:63-69.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 63-69
-
-
Schinzel, A.A.1
Robinson, W.P.2
Binkert, F.3
Fanconi, A.4
-
171
-
-
64149090673
-
Intrauterine growth restriction due to uteroplacental insufficiency decreased white matter and altered NMDAR subunit composition in juvenile rat hippocampi
-
Schober ME, McKnight RA, Yu X, Callaway CW, Ke X, Lane RH. 2009. Intrauterine growth restriction due to uteroplacental insufficiency decreased white matter and altered NMDAR subunit composition in juvenile rat hippocampi. Am J Physiol Regul Integr Comp Physiol 296:R681-R692.
-
(2009)
Am J Physiol Regul Integr Comp Physiol
, vol.296
-
-
Schober, M.E.1
McKnight, R.A.2
Yu, X.3
Callaway, C.W.4
Ke, X.5
Lane, R.H.6
-
172
-
-
33846461696
-
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome
-
Schönherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. 2007. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. J Med Genet 44:59-63.
-
(2007)
J Med Genet
, vol.44
, pp. 59-63
-
-
Schönherr, N.1
Meyer, E.2
Roos, A.3
Schmidt, A.4
Wollmann, H.A.5
Eggermann, T.6
-
174
-
-
39149142187
-
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
-
Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N. 2008. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. J Med Genet 45:106-113.
-
(2008)
J Med Genet
, vol.45
, pp. 106-113
-
-
Scott, R.H.1
Douglas, J.2
Baskcomb, L.3
Nygren, A.O.4
Birch, J.M.5
Cole, T.R.6
Cormier-Daire, V.7
Eastwood, D.M.8
Garcia-Minaur, S.9
Lupunzina, P.10
Tatton-Brown, K.11
Bliek, J.12
Maher, E.R.13
Rahman, N.14
-
176
-
-
27144509708
-
Placental phenotypes of intrauterine growth
-
Sibley CP, Turner MA, Cetin I, Ayuk P, Boyd CA, D'Souza SW, Glazier JD, Greenwood SL, Jansson T, Powell T. 2005. Placental phenotypes of intrauterine growth. Pediatr Res 58:827-832.
-
(2005)
Pediatr Res
, vol.58
, pp. 827-832
-
-
Sibley, C.P.1
Turner, M.A.2
Cetin, I.3
Ayuk, P.4
Boyd, C.A.5
D'Souza, S.W.6
Glazier, J.D.7
Greenwood, S.L.8
Jansson, T.9
Powell, T.10
-
177
-
-
78651048074
-
Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins
-
Silver HK, Kiyasu W, George J, Deamer WC. 1953. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 12:368-376.
-
(1953)
Pediatrics
, vol.12
, pp. 368-376
-
-
Silver, H.K.1
Kiyasu, W.2
George, J.3
Deamer, W.C.4
-
178
-
-
17944364174
-
Fetal growth and blood pressure in a Danish population aged 31-51 years
-
Sorensen HT, Thulstrup AM, Norgdard B, Engberg M, Madsen KM, Johnsen SP, Olsen J. Lauritzen T. 2000. Fetal growth and blood pressure in a Danish population aged 31-51 years. Scand Cardiovasc J 34:390-395.
-
(2000)
Scand Cardiovasc J
, vol.34
, pp. 390-395
-
-
Sorensen, H.T.1
Thulstrup, A.M.2
Norgdard, B.3
Engberg, M.4
Madsen, K.M.5
Johnsen, S.P.6
Olsen, J.7
Lauritzen, T.8
-
179
-
-
0030052498
-
SHORT syndrome: A new case with probable autosomal dominant inheritance
-
Sorge G, Ruggieri M, Polizzi A, Scuderi A, Di Pietro M. 1996. SHORT syndrome: A new case with probable autosomal dominant inheritance. Am J Med Genet 61:178-181.
-
(1996)
Am J Med Genet
, vol.61
, pp. 178-181
-
-
Sorge, G.1
Ruggieri, M.2
Polizzi, A.3
Scuderi, A.4
Di Pietro, M.5
-
180
-
-
32544437390
-
Mulibrey nanism. Clinical and molecular aspects
-
Sorge G, Greco F, Mattina T, Hamalainen R, Fiumara A. 2005. Mulibrey nanism. Clinical and molecular aspects. Ital J Pediatr 31:340-344.
-
(2005)
Ital J Pediatr
, vol.31
, pp. 340-344
-
-
Sorge, G.1
Greco, F.2
Mattina, T.3
Hamalainen, R.4
Fiumara, A.5
-
181
-
-
0030704615
-
Does malnutrition in utero determine diabetes and coronary heart disease in adulthood? Results from the Leningrad siege study, a cross sectional study
-
Stanner SA, Bulmer K, Andrés C, Lantseva OE, Borodina V, Poteen VV, Yudkin JS. 1997. Does malnutrition in utero determine diabetes and coronary heart disease in adulthood? Results from the Leningrad siege study, a cross sectional study. BMJ 315:1342-1348.
-
(1997)
BMJ
, vol.315
, pp. 1342-1348
-
-
Stanner, S.A.1
Bulmer, K.2
Andrés, C.3
Lantseva, O.E.4
Borodina, V.5
Poteen, V.V.6
Yudkin, J.S.7
-
182
-
-
0030577219
-
Fetal growth and coronary heart disease in south India
-
Stein CE, Fall CH, Kumaran K, Osmond C, Cox V, Barker DJ. 1996. Fetal growth and coronary heart disease in south India. Lancet 348:1269-1273.
-
(1996)
Lancet
, vol.348
, pp. 1269-1273
-
-
Stein, C.E.1
Fall, C.H.2
Kumaran, K.3
Osmond, C.4
Cox, V.5
Barker, D.J.6
-
183
-
-
23844480131
-
Increased risk of Silver-Russell syndrome after in vitro fertilization?
-
Svenson J, Björnståhl A, Ivarsson SA. 2005. Increased risk of Silver-Russell syndrome after in vitro fertilization? Acta Pediatr 94:1163-1165.
-
(2005)
Acta Pediatr
, vol.94
, pp. 1163-1165
-
-
Svenson, J.1
Björnståhl, A.2
Ivarsson, S.A.3
-
184
-
-
0027522656
-
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome
-
Tamura T, Tohma T, Ohta T, Soejima H, Harada N, Abe K, Niikawa N. 1993. Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Clin Dysmorphol 2:106-113.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 106-113
-
-
Tamura, T.1
Tohma, T.2
Ohta, T.3
Soejima, H.4
Harada, N.5
Abe, K.6
Niikawa, N.7
-
185
-
-
0026884148
-
Autosomal recessive Silver-Russell syndrome
-
Teebi AS. 1992. Autosomal recessive Silver-Russell syndrome. Clin Dysmorphol 1:151-156.
-
(1992)
Clin Dysmorphol
, vol.1
, pp. 151-156
-
-
Teebi, A.S.1
-
186
-
-
84982368656
-
Fetal emergence patterns in evolutionary perspective
-
Trevathan W. 1988. Fetal emergence patterns in evolutionary perspective. Am Anthropol 90:674-681.
-
(1988)
Am Anthropol
, vol.90
, pp. 674-681
-
-
Trevathan, W.1
-
187
-
-
0029997428
-
Dubowitz syndrome: Review of 141 cases including 36 previously unreported patients
-
Tsukahara M, Opitz JM. 1996. Dubowitz syndrome: Review of 141 cases including 36 previously unreported patients. Am J Med Genet 63:277-289.
-
(1996)
Am J Med Genet
, vol.63
, pp. 277-289
-
-
Tsukahara, M.1
Opitz, J.M.2
-
188
-
-
2442676860
-
Seckel syndrome associated with atrioventricular canal defect: A case report
-
Ucar B, Kilic Z, Dinleyici EC, Yakut A, Dogruel N. 2004. Seckel syndrome associated with atrioventricular canal defect: A case report. Clin Dysmorphol 13:53-55.
-
(2004)
Clin Dysmorphol
, vol.13
, pp. 53-55
-
-
Ucar, B.1
Kilic, Z.2
Dinleyici, E.C.3
Yakut, A.4
Dogruel, N.5
-
190
-
-
0036347823
-
Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: Further delineation of the pure 1q trisomy syndrome
-
van Haelst MM, Eussen HJ, Visscher F, de Ruijter JL, Drop SL, Lindhout D, Wouters CH, Govaerts LC. 2002. Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: Further delineation of the pure 1q trisomy syndrome. J Med Genet 39:582-585.
-
(2002)
J Med Genet
, vol.39
, pp. 582-585
-
-
van Haelst, M.M.1
Eussen, H.J.2
Visscher, F.3
de Ruijter, J.L.4
Drop, S.L.5
Lindhout, D.6
Wouters, C.H.7
Govaerts, L.C.8
-
191
-
-
0028088107
-
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome: A case report
-
Verge CF, Donaghue KC, Williams PF, Cowell CT, Silink M. 1994. Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome: A case report. Acta Paediatr 83:786-788.
-
(1994)
Acta Paediatr
, vol.83
, pp. 786-788
-
-
Verge, C.F.1
Donaghue, K.C.2
Williams, P.F.3
Cowell, C.T.4
Silink, M.5
-
192
-
-
21644489629
-
Floating-Harbor syndrome complicated by tethered cord: A new association and potential contribution from growth hormone therapy
-
Wiltshire E, Wickremesekera A, Dixon J. 2005. Floating-Harbor syndrome complicated by tethered cord: A new association and potential contribution from growth hormone therapy. Am J Med Genet Part A 136A:81-83.
-
(2005)
Am J Med Genet
, vol.136 A
, Issue.PART A
, pp. 81-83
-
-
Wiltshire, E.1
Wickremesekera, A.2
Dixon, J.3
-
193
-
-
0022571147
-
Dubowitz syndrome.
-
Winter RM. 1986. Dubowitz syndrome. J Med Genet 23:11-13.
-
(1986)
J Med Genet
, vol.23
, pp. 11-13
-
-
Winter, R.M.1
-
194
-
-
0021329206
-
The 3-M syndrome
-
Winter RM, Baraitser M, Grant DB, Preece MA, Hall CM. 1984. The 3-M syndrome. J Med Genet 21:124-128.
-
(1984)
J Med Genet
, vol.21
, pp. 124-128
-
-
Winter, R.M.1
Baraitser, M.2
Grant, D.B.3
Preece, M.A.4
Hall, C.M.5
-
195
-
-
75449093864
-
-
Winter RM, Baraitser M, editors. 2007. Winter-Baraitser Dysmorphology Database (London Medical Databases version 1.0.14). Oxford, UK: Oxford University Press.
-
Winter RM, Baraitser M, editors. 2007. Winter-Baraitser Dysmorphology Database (London Medical Databases version 1.0.14). Oxford, UK: Oxford University Press.
-
-
-
-
196
-
-
0037327541
-
Neonatal anthropometry: The thin-fat Indian baby. The Pune Maternal Nutrition Study
-
Yajnik CS, Fall CH, Coyaji KJ, Hirve SS, Rao S, Barker DJ, Joglekar C, Kellingray S. 2003. Neonatal anthropometry: The thin-fat Indian baby. The Pune Maternal Nutrition Study. Int J Obes Relat Metab Disord 27:173-180.
-
(2003)
Int J Obes Relat Metab Disord
, vol.27
, pp. 173-180
-
-
Yajnik, C.S.1
Fall, C.H.2
Coyaji, K.J.3
Hirve, S.S.4
Rao, S.5
Barker, D.J.6
Joglekar, C.7
Kellingray, S.8
-
197
-
-
38849159212
-
Placental hypoplasia in maternal uniparental disomy for chromosome 7
-
Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T. 2008a. Placental hypoplasia in maternal uniparental disomy for chromosome 7. Am J Med Genet Part A 146A:514-516.
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.PART A
, pp. 514-516
-
-
Yamazawa, K.1
Kagami, M.2
Ogawa, M.3
Horikawa, R.4
Ogata, T.5
-
198
-
-
52649109709
-
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
-
Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T. 2008b. Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. J Hum Genet 53:950-955.
-
(2008)
J Hum Genet
, vol.53
, pp. 950-955
-
-
Yamazawa, K.1
Kagami, M.2
Fukami, M.3
Matsubara, K.4
Ogata, T.5
-
199
-
-
0033854339
-
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome
-
Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. 2000. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am J Hum Genet 67:476-482.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 476-482
-
-
Yoshihashi, H.1
Maeyama, K.2
Kosaki, R.3
Ogata, T.4
Tsukahara, M.5
Goto, Y.6
Hata, J.7
Matsuo, N.8
Smith, R.J.9
Kosaki, K.10
-
200
-
-
2442430342
-
Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease: Another patient
-
Young ID, Barrow M, Hall CM. 2004. Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease: Another patient. Am J Med Genet Part A 127A:218-220.
-
(2004)
Am J Med Genet
, vol.127 A
, Issue.PART A
, pp. 218-220
-
-
Young, I.D.1
Barrow, M.2
Hall, C.M.3
-
201
-
-
39749173843
-
IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
-
Zeschnigk M, Albrecht B, Buiting K, Kanber D, Eggermann T, Binder G, Gromoll J, Prott EC, Seland S, Horsthemke B. 2008. IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia. Eur J Hum Genet 16:328-334.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 328-334
-
-
Zeschnigk, M.1
Albrecht, B.2
Buiting, K.3
Kanber, D.4
Eggermann, T.5
Binder, G.6
Gromoll, J.7
Prott, E.C.8
Seland, S.9
Horsthemke, B.10
|