-
1
-
-
0029080844
-
Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals
-
Phelan MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB. Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. Am J Med Genet 1995;58:1-7.
-
(1995)
Am J Med Genet
, vol.58
, pp. 1-7
-
-
Phelan, M.C.1
Rogers, R.C.2
Clarkson, K.B.3
Bowyer, F.P.4
Levine, M.A.5
Estabrooks, L.L.6
Severson, M.C.7
Dobyns, W.B.8
-
2
-
-
0028813978
-
Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localised to 2q37
-
Wilson LC, Leverton K, Oude Luttikhuis MEM, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, Trembath RC. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localised to 2q37. Am J Hum Genet 1995;56:400-7.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 400-407
-
-
Wilson, L.C.1
Leverton, K.2
Oude Luttikhuis, M.E.M.3
Oley, C.A.4
Flint, J.5
Wolstenholme, J.6
Duckett, D.P.7
Barrow, M.A.8
Leonard, J.V.9
Read, A.P.10
Trembath, R.C.11
-
3
-
-
0342513851
-
Microdeletion in chromosome 2qter in two unrelated children with characteristic facies and mental retardation
-
Haag M, Gilfillan T, Berry R, Hull C, Stewart J, Manchester DK, McGavran L. Microdeletion in chromosome 2qter in two unrelated children with characteristic facies and mental retardation. Am J Hum Genet 1993;53:A1571.
-
(1993)
Am J Hum Genet
, vol.53
-
-
Haag, M.1
Gilfillan, T.2
Berry, R.3
Hull, C.4
Stewart, J.5
Manchester, D.K.6
McGavran, L.7
-
4
-
-
0030916590
-
RDC1, the vasoactive intestinal peptide receptor: A candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37
-
Power MM, James RS, Barber JCK, Fisher AM, Wood PJ, Leatherdale BA, Flanagan DEH, Hatchwell E. RDC1, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37. J Med Genet 1997;34:287-90.
-
(1997)
J Med Genet
, vol.34
, pp. 287-290
-
-
Power, M.M.1
James, R.S.2
Barber, J.C.K.3
Fisher, A.M.4
Wood, P.J.5
Leatherdale, B.A.6
Flanagan, D.E.H.7
Hatchwell, E.8
-
5
-
-
24544448828
-
Deletion of chromosomal region 2q37: Clinical phenotype in eight cases
-
Friedman BD, Gorski JL, Hall BD, Brothman A, Carey JC, Arbor WL. Deletion of chromosomal region 2q37: clinical phenotype in eight cases. Am J Hum Genet 1997;61:A545.
-
(1997)
Am J Hum Genet
, vol.61
-
-
Friedman, B.D.1
Gorski, J.L.2
Hall, B.D.3
Brothman, A.4
Carey, J.C.5
Arbor, W.L.6
-
6
-
-
0031981781
-
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome
-
Viot-Szoboszlai G, Amiel J, Doz F, Prieur M, Couturier J, Zucker JN, Henry I, Munnich A, Vekemans M, Lyonnet S. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome. Clin Genet 1998;53:278-80.
-
(1998)
Clin Genet
, vol.53
, pp. 278-280
-
-
Viot-Szoboszlai, G.1
Amiel, J.2
Doz, F.3
Prieur, M.4
Couturier, J.5
Zucker, J.N.6
Henry, I.7
Munnich, A.8
Vekemans, M.9
Lyonnet, S.10
-
7
-
-
0032794675
-
Familial cryptic translocation between chromosomes 2qter and 8qter: Further delineation of the Albright hereditary osteodystrophy-like phenotype
-
Bijlsma EK, Aalfs CM, Sluijter S, Oude Luttikhuis MEM, Trembath RC, Hoovers JMN, Hennekam RCM. Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet 1999;36:604-9.
-
(1999)
J Med Genet
, vol.36
, pp. 604-609
-
-
Bijlsma, E.K.1
Aalfs, C.M.2
Sluijter, S.3
Oude Luttikhuis, M.E.M.4
Trembath, R.C.5
Hoovers, J.M.N.6
Hennekam, R.C.M.7
-
8
-
-
24544447736
-
Two distinctively different phenotypes of 2q37 terminal deletion: Location of a gene on telomeric 2q37 mimicking Albright hereditary osteodystrophy/pseudohypoparathyroidism
-
Braddock BR, Shrimpton AE, Stein CS, Hoo JJ. Two distinctively different phenotypes of 2q37 terminal deletion: location of a gene on telomeric 2q37 mimicking Albright hereditary osteodystrophy/pseudohypoparathyroidism. Am J Hum Genet 1999;65:A861.
-
(1999)
Am J Hum Genet
, vol.65
-
-
Braddock, B.R.1
Shrimpton, A.E.2
Stein, C.S.3
Hoo, J.J.4
-
9
-
-
0032964922
-
Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs visceram
-
Reddy KS, Flannery D, Farrer RJ. Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs visceram. Am J Med Genet 1999;84:460-8.
-
(1999)
Am J Med Genet
, vol.84
, pp. 460-468
-
-
Reddy, K.S.1
Flannery, D.2
Farrer, R.J.3
-
10
-
-
0034761970
-
Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: Report of a case and of new markers for deletion screening by PCR
-
Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA. Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR. Cytogenet Cell Genet 2001;94:15-22.
-
(2001)
Cytogenet Cell Genet
, vol.94
, pp. 15-22
-
-
Smith, M.1
Escamilla, J.R.2
Filipek, P.3
Bocian, M.E.4
Modahl, C.5
Flodman, P.6
Spence, M.A.7
-
11
-
-
18344367819
-
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
-
Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romona S, Vekemans M, Munnich A, Colleaux L. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J Med Genet 2002;39:266-70.
-
(2002)
J Med Genet
, vol.39
, pp. 266-270
-
-
Rio, M.1
Molinari, F.2
Heuertz, S.3
Ozilou, C.4
Gosset, P.5
Raoul, O.6
Cormier-Daire, V.7
Amiel, J.8
Lyonnet, S.9
Le Merrer, M.10
Turleau, C.11
De Blois, M.C.12
Prieur, M.13
Romona, S.14
Vekemans, M.15
Munnich, A.16
Colleaux, L.17
-
12
-
-
0036532244
-
Glypican 1 gene: Good candidate for brachydactyly type E
-
Syrrou M, Keymolen K, Devriendt K, Holvoet M, Thoelen R, Verhofstadt K, Fryns J-P. Glypican 1 gene: good candidate for brachydactyly type E. Am J Med Genet 2002;108:310-4.
-
(2002)
Am J Med Genet
, vol.108
, pp. 310-314
-
-
Syrrou, M.1
Keymolen, K.2
Devriendt, K.3
Holvoet, M.4
Thoelen, R.5
Verhofstadt, K.6
Fryns, J.-P.7
-
13
-
-
18444404919
-
Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes
-
Weise A, Starke H, Heller A, Tonnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T. Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. J Med Genet 2002;39:434-9.
-
(2002)
J Med Genet
, vol.39
, pp. 434-439
-
-
Weise, A.1
Starke, H.2
Heller, A.3
Tonnies, H.4
Volleth, M.5
Stumm, M.6
Gabriele, S.7
Nietzel, A.8
Claussen, U.9
Liehr, T.10
-
14
-
-
0041319661
-
Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation
-
Batstone PJ, Simpson S, Bonthron DT, Keng WT, Hamilton D, Forsyth L, Sales M, Pratt N, Goudie D. Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation. Am J Med Genet 2003;118A:241-6.
-
(2003)
Am J Med Genet
, vol.118 A
, pp. 241-246
-
-
Batstone, P.J.1
Simpson, S.2
Bonthron, D.T.3
Keng, W.T.4
Hamilton, D.5
Forsyth, L.6
Sales, M.7
Pratt, N.8
Goudie, D.9
-
15
-
-
0141857855
-
Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)
-
Giardino D, Finelli P, Gottardi G, De Canal G, Monica MD, Lonardo F, Scarano G, Larizza L. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). Am J Med Genet 2003;122A:261-5.
-
(2003)
Am J Med Genet
, vol.122 A
, pp. 261-265
-
-
Giardino, D.1
Finelli, P.2
Gottardi, G.3
De Canal, G.4
Monica, M.D.5
Lonardo, F.6
Scarano, G.7
Larizza, L.8
-
16
-
-
0028073577
-
Small terminal deletions of the long arm of chromosome 2: Two new cases
-
Fisher AM, Ellis KH, Browne CE, Barber JCK, Barker M, Kennedy CR, Foley H, Patton MA. Small terminal deletions of the long arm of chromosome 2: two new cases. Am J Med Genet 1994;53:366-9.
-
(1994)
Am J Med Genet
, vol.53
, pp. 366-369
-
-
Fisher, A.M.1
Ellis, K.H.2
Browne, C.E.3
Barber, J.C.K.4
Barker, M.5
Kennedy, C.R.6
Foley, H.7
Patton, M.A.8
-
17
-
-
0027976080
-
Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37)
-
Wang TH, Johnston K, Hsieh CL, Dennery PA. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). Am J Med Genet 1994;49:399-401.
-
(1994)
Am J Med Genet
, vol.49
, pp. 399-401
-
-
Wang, T.H.1
Johnston, K.2
Hsieh, C.L.3
Dennery, P.A.4
-
19
-
-
0029038024
-
Clinical phenotype associated with terminal 2q37 deletion
-
Conrad B, Dewald G, Christensen E, Lopez M, Higgins J, Pierpaint ME. Clinical phenotype associated with terminal 2q37 deletion. Clin Genet 1995;48:134-9.
-
(1995)
Clin Genet
, vol.48
, pp. 134-139
-
-
Conrad, B.1
Dewald, G.2
Christensen, E.3
Lopez, M.4
Higgins, J.5
Pierpaint, M.E.6
-
20
-
-
24544473464
-
Significant hypotonia and developmental delay: Hallmarks of a terminal deletion of chromosome 2q
-
Ardinger HH, Persons DL, Lutz RE, Beattie MA. Significant hypotonia and developmental delay: hallmarks of a terminal deletion of chromosome 2q. Am J Hum Genet 1999;65:A853.
-
(1999)
Am J Hum Genet
, vol.65
-
-
Ardinger, H.H.1
Persons, D.L.2
Lutz, R.E.3
Beattie, M.A.4
-
21
-
-
0035709422
-
Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child
-
Giardino D, Finelli P, Gottardi G, Clerici D, Mosca F, Briscioli V, Larizza L. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child. Eur J Hum Genet 2001;9:881-6.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 881-886
-
-
Giardino, D.1
Finelli, P.2
Gottardi, G.3
Clerici, D.4
Mosca, F.5
Briscioli, V.6
Larizza, L.7
-
22
-
-
0032771690
-
Anterior chamber eye anomalies, redundant skin and syndactyly - A new syndrome associated with breakpoints at 2q37.2 and 7q36.3
-
Temple IK, Browne C, Hodgkins P. Anterior chamber eye anomalies, redundant skin and syndactyly - a new syndrome associated with breakpoints at 2q37.2 and 7q36.3. Clin Dysmorphol 1999;8:157-63.
-
(1999)
Clin Dysmorphol
, vol.8
, pp. 157-163
-
-
Temple, I.K.1
Browne, C.2
Hodgkins, P.3
-
23
-
-
0031899453
-
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation
-
Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J Med Genet 1998;35:225-33.
-
(1998)
J Med Genet
, vol.35
, pp. 225-233
-
-
Ghaffari, S.R.1
Boyd, E.2
Tolmie, J.L.3
Crow, Y.J.4
Trainer, A.H.5
Connor, J.M.6
-
24
-
-
0345327682
-
Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions
-
Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S. Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions. Am J Med Genet 2003;123A:285-9.
-
(2003)
Am J Med Genet
, vol.123 A
, pp. 285-289
-
-
Bruyere, H.1
Rajcan-Separovic, E.2
Doyle, J.3
Pantzar, T.4
Langlois, S.5
-
26
-
-
0033872079
-
Inverted duplications are recurrent rearrangements always associated with a distal deletion: Description of a new case involving 2q
-
Bonaglia MC, Giorda R, Poggi G, Raggi ME, Rossi E, Baroncini A, Giglio S, Borgatti R, Zuffardi O. Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q. Eur J Hum Genet 2000;8:597-603.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 597-603
-
-
Bonaglia, M.C.1
Giorda, R.2
Poggi, G.3
Raggi, M.E.4
Rossi, E.5
Baroncini, A.6
Giglio, S.7
Borgatti, R.8
Zuffardi, O.9
-
27
-
-
0034608441
-
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
-
Bocino CA, Kashork CD, Davino NA, Shaffer LG. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet 2000;92:250-5.
-
(2000)
Am J Med Genet
, vol.92
, pp. 250-255
-
-
Bocino, C.A.1
Kashork, C.D.2
Davino, N.A.3
Shaffer, L.G.4
-
28
-
-
0024405541
-
Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)
-
Gorski JL, Cox BA, Kyine M, Uhlmann W, Glover TW. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37). Am J Med Genet 1989;32:350-2.
-
(1989)
Am J Med Genet
, vol.32
, pp. 350-352
-
-
Gorski, J.L.1
Cox, B.A.2
Kyine, M.3
Uhlmann, W.4
Glover, T.W.5
-
29
-
-
0038750668
-
Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances
-
Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Ades L, Darmanian A, Callen D. Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances. Am J Med Genet 2003;117A:57-64.
-
(2003)
Am J Med Genet
, vol.117 A
, pp. 57-64
-
-
Daniel, A.1
Baker, E.2
Chia, N.3
Haan, E.4
Malafiej, P.5
Hinton, L.6
Clarke, N.7
Ades, L.8
Darmanian, A.9
Callen, D.10
-
31
-
-
0034726690
-
Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35→qter: Molecular cytogenetic analysis and clinical phenotype in two generations
-
Speleman F, Callens B, Logghe K, Van Roy N, Horsley SW, Jauch A, Verschraegen-Spae MR, Leroy JG. Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35→qter: molecular cytogenetic analysis and clinical phenotype in two generations. Am J Med Genet 2000;93:349-54.
-
(2000)
Am J Med Genet
, vol.93
, pp. 349-354
-
-
Speleman, F.1
Callens, B.2
Logghe, K.3
Van Roy, N.4
Horsley, S.W.5
Jauch, A.6
Verschraegen-Spae, M.R.7
Leroy, J.G.8
-
32
-
-
0036358010
-
Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion
-
Wolff DJ, Clifton K, Karr C, Charles J. Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q deletion. Genet Med 2002;4:10-4.
-
(2002)
Genet Med
, vol.4
, pp. 10-14
-
-
Wolff, D.J.1
Clifton, K.2
Karr, C.3
Charles, J.4
-
33
-
-
0035341275
-
Holoprosencephaly associated with an apparent isolated 2q37. 1→2q37.3 deletion
-
Lehman NL, Zaleski DH, Sanger WG, Adickes E, eds. Holoprosencephaly associated with an apparent isolated 2q37. 1→2q37.3 deletion. Am J Med Genet 2001;100:179-81.
-
(2001)
Am J Med Genet
, vol.100
, pp. 179-181
-
-
Lehman, N.L.1
Zaleski, D.H.2
Sanger, W.G.3
Adickes, E.4
-
34
-
-
0034650292
-
Measurement of locus copy number by hybridisation with amplifiable probes
-
Armour JA, Sismani C, Patsalis PC, Cross G. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 2000;28:605-9.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 605-609
-
-
Armour, J.A.1
Sismani, C.2
Patsalis, P.C.3
Cross, G.4
-
35
-
-
18444368121
-
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
-
White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJ, Breuning MH, den Dunnen JT. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 2002;71:365-74.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 365-374
-
-
White, S.1
Kalf, M.2
Liu, Q.3
Villerius, M.4
Engelsma, D.5
Kriek, M.6
Vollebregt, E.7
Bakker, B.8
Van Ommen, G.J.9
Breuning, M.H.10
Den Dunnen, J.T.11
-
36
-
-
0033555906
-
Tandem repeats finder: A program to analyze DNA sequences
-
Benson G. Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res 1999;27:573-80.
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 573-580
-
-
Benson, G.1
-
37
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 2000;67:320-32.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 320-332
-
-
Knight, S.J.1
Lese, C.M.2
Precht, K.S.3
Kuc, J.4
Ning, Y.5
Lucas, S.6
Regan, R.7
Brenan, M.8
Nicod, A.9
Lawrie, N.M.10
Cardy, D.L.11
Nguyen, H.12
Hudson, T.J.13
Riethman, H.C.14
Ledbetter, D.H.15
Flint, J.16
-
38
-
-
0033764929
-
The promise and pitfalls of telomere region-specific probes
-
Ballif BC, Kashork CD, Shaffer LG. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 2000;67:1356-9.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1356-1359
-
-
Ballif, B.C.1
Kashork, C.D.2
Shaffer, L.G.3
-
39
-
-
0028905182
-
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
-
Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 1995;56:1156-61.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1156-1161
-
-
Nickerson, E.1
Greenberg, F.2
Keating, M.T.3
McCaskill, C.4
Shaffer, L.G.5
-
40
-
-
0031945026
-
High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions
-
Baumer A, Dutly F, Balmer D, Riegel M, Tukel T, Krajewska-Walasek M, Schinzel AA. High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions. Hum Mol Genet 1998;7:887-94.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 887-894
-
-
Baumer, A.1
Dutly, F.2
Balmer, D.3
Riegel, M.4
Tukel, T.5
Krajewska-Walasek, M.6
Schinzel, A.A.7
-
41
-
-
0036362854
-
Molecular characterization of 18p deletions: Evidence far a breakpoint cluster
-
Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions: evidence far a breakpoint cluster. Genet Med 2002;4:15-9.
-
(2002)
Genet Med
, vol.4
, pp. 15-19
-
-
Schaub, R.L.1
Reveles, X.T.2
Baillargeon, J.3
Leach, R.J.4
Cody, J.D.5
-
42
-
-
0030950952
-
Preferential loss of the paternal alleles in the 18q- Syndrome
-
Cody JD, Pierce JF, Brkanac I, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. Preferential loss of the paternal alleles in the 18q- syndrome. Am J Med Genet 1997;69:280-6.
-
(1997)
Am J Med Genet
, vol.69
, pp. 280-286
-
-
Cody, J.D.1
Pierce, J.F.2
Brkanac, I.3
Plaetke, R.4
Ghidoni, P.D.5
Kaye, C.I.6
Leach, R.J.7
-
43
-
-
0033949022
-
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion
-
Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet 2000;8:519-26.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 519-526
-
-
Wieczorek, D.1
Krause, M.2
Majewski, F.3
Albrecht, B.4
Horn, D.5
Riess, O.6
Gillessen-Kaesbach, G.7
-
44
-
-
0035078603
-
Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
-
Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 2001;38:151-8.
-
(2001)
J Med Genet
, vol.38
, pp. 151-158
-
-
Mainardi, P.C.1
Perfumo, C.2
Cali, A.3
Coucourde, G.4
Pastore, G.5
Cavani, S.6
Zara, F.7
Overhauser, J.8
Pierluigi, M.9
Bricarelli, F.D.10
-
45
-
-
0038067733
-
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome
-
Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet 2003;72:1331-7.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1331-1337
-
-
Miyake, N.1
Kurotaki, N.2
Sugawara, H.3
Shimokawa, O.4
Harada, N.5
Kondoh, T.6
Tsukahara, M.7
Ishikiriyama, S.8
Sonoda, T.9
Miyoshi, Y.10
Sakazume, S.11
Fukushima, Y.12
Ohashi, H.13
Nagai, T.14
Kawame, H.15
Kurosawa, K.16
Touyama, M.17
Shiihara, T.18
Okamoto, N.19
Nishimoto, J.20
Yoshiura, K.21
Ohta, T.22
Kishino, T.23
Niikawa, N.24
Matsumoto, N.25
more..
-
46
-
-
0038406165
-
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
-
Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 2003;72:1200-12.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1200-1212
-
-
Heilstedt, H.A.1
Ballif, B.C.2
Howard, L.A.3
Lewis, R.A.4
Stal, S.5
Kashork, C.D.6
Bacino, C.A.7
Shapira, S.K.8
Shaffer, L.G.9
-
47
-
-
0037373130
-
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
-
Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butte C, Memo L, Capovilla G, Neri G. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 2003;72:590-7.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 590-597
-
-
Zollino, M.1
Lecce, R.2
Fischetto, R.3
Murdolo, M.4
Faravelli, F.5
Selicorni, A.6
Butte, C.7
Memo, L.8
Capovilla, G.9
Neri, G.10
-
48
-
-
0033200284
-
LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients
-
Endele S, Fuhry M, Pak SJ, Zabel BU, Winterpacht A. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Genomics 1999;60:218-25.
-
(1999)
Genomics
, vol.60
, pp. 218-225
-
-
Endele, S.1
Fuhry, M.2
Pak, S.J.3
Zabel, B.U.4
Winterpacht, A.5
-
49
-
-
0033852945
-
Detailed mapping of a congenital heart disease gene in chromosome 3p25
-
Green EK, Priestley MD, Waters J, Maliszewska C, Latif F, Maher ER. Detailed mapping of a congenital heart disease gene in chromosome 3p25. J Med Genet 2000;37:581-7.
-
(2000)
J Med Genet
, vol.37
, pp. 581-587
-
-
Green, E.K.1
Priestley, M.D.2
Waters, J.3
Maliszewska, C.4
Latif, F.5
Maher, E.R.6
-
50
-
-
0344406969
-
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects
-
Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 2003;72:1047-52.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1047-1052
-
-
Robinson, S.W.1
Morris, C.D.2
Goldmuntz, E.3
Reller, M.D.4
Jones, M.A.5
Steiner, R.D.6
Maslen, C.L.7
-
51
-
-
0034935075
-
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
-
Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet 2001;28:386-8.
-
(2001)
Nat Genet
, vol.28
, pp. 386-388
-
-
Gao, B.1
Guo, J.2
She, C.3
Shu, A.4
Yang, M.5
Tan, Z.6
Yang, X.7
Guo, S.8
Feng, G.9
He, L.10
-
52
-
-
0035417013
-
STK25 is a candidate gene for pseudopseudohypoparathyroidism
-
Davids MS, Crawford E, Weremowicz S, Morton CC, Copeland NG, Gilbert DJ, Jenkins NA, Phelan MC, Comb MJ, Melnick MB. STK25 is a candidate gene for pseudopseudohypoparathyroidism. Genomics 2001;77:2-4.
-
(2001)
Genomics
, vol.77
, pp. 2-4
-
-
Davids, M.S.1
Crawford, E.2
Weremowicz, S.3
Morton, C.C.4
Copeland, N.G.5
Gilbert, D.J.6
Jenkins, N.A.7
Phelan, M.C.8
Comb, M.J.9
Melnick, M.B.10
-
53
-
-
0033766291
-
Human Dermo-1 has attributes similar to twist in early bone development
-
Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA. Human Dermo-1 has attributes similar to twist in early bone development. Bone 2000;27:591-602.
-
(2000)
Bone
, vol.27
, pp. 591-602
-
-
Lee, M.S.1
Lowe, G.2
Flanagan, S.3
Kuchler, K.4
Glackin, C.A.5
-
54
-
-
0142059641
-
A genome wide screen of 345 families for autism-susceptibility loci
-
Yonan AL, Alarcon M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, Grunn A, Juo SH, Terwilliger JD, Liu J, Cantor RM, Geschwind DH, Gilliam TC. A genome wide screen of 345 families for autism-susceptibility loci. Am J Hum Genet 2003;73:886-97.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 886-897
-
-
Yonan, A.L.1
Alarcon, M.2
Cheng, R.3
Magnusson, P.K.4
Spence, S.J.5
Palmer, A.A.6
Grunn, A.7
Juo, S.H.8
Terwilliger, J.D.9
Liu, J.10
Cantor, R.M.11
Geschwind, D.H.12
Gilliam, T.C.13
-
55
-
-
0037329890
-
VEGF: A modifier of the del22q11 (DiGeorge) syndrome?
-
Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, von der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-de Groot AC, Scambler P, Morrow B, Driscol DA, Moons L, Esguerra CV, Carmeliet G, Behn-Krappa A, Devriendt K, Collen D, Conway SJ, Carmeliet P. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med 2003;9:173-82.
-
(2003)
Nat Med
, vol.9
, pp. 173-182
-
-
Stalmans, I.1
Lambrechts, D.2
De Smet, F.3
Jansen, S.4
Wang, J.5
Maity, S.6
Kneer, P.7
Von Der Ohe, M.8
Swillen, A.9
Maes, C.10
Gewillig, M.11
Molin, D.G.12
Hellings, P.13
Boetel, T.14
Haardt, M.15
Compernolle, V.16
Dewerchin, M.17
Plaisance, S.18
Vlietinck, R.19
Emanuel, B.20
Gittenberger-de Groot, A.C.21
Scambler, P.22
Morrow, B.23
Driscol, D.A.24
Moons, L.25
Esguerra, C.V.26
Carmeliet, G.27
Behn-Krappa, A.28
Devriendt, K.29
Collen, D.30
Conway, S.J.31
Carmeliet, P.32
more..
-
56
-
-
0036844229
-
Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
-
Ming JE, Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet 2002;71:1017-32.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1017-1032
-
-
Ming, J.E.1
Muenke, M.2
-
57
-
-
0034028921
-
Structure of chromosomal duplicons and their role in mediating human genomic disorders
-
Ji Y, Eichler EE, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000;10:597-610.
-
(2000)
Genome Res
, vol.10
, pp. 597-610
-
-
Ji, Y.1
Eichler, E.E.2
Schwartz, S.3
Nicholls, R.D.4
-
58
-
-
0035179436
-
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
-
Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001;29:321-5.
-
(2001)
Nat Genet
, vol.29
, pp. 321-325
-
-
Osborne, L.R.1
Li, M.2
Pober, B.3
Chitayat, D.4
Bodurtha, J.5
Mandel, A.6
Costa, T.7
Grebe, T.8
Cox, S.9
Tsui, L.C.10
Scherer, S.W.11
-
59
-
-
0036591666
-
Molecular-evolutionary mechanisms for genomic disorders
-
Stankiewicz P, Lupski JR. Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 2002;12:312-9.
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 312-319
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
60
-
-
0035071955
-
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
-
Giglia S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 2001;68:874-83.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 874-883
-
-
Giglia, S.1
Broman, K.W.2
Matsumoto, N.3
Calvari, V.4
Gimelli, G.5
Neumann, T.6
Ohashi, H.7
Voullaire, L.8
Larizza, D.9
Giorda, R.10
Weber, J.L.11
Ledbetter, D.H.12
Zuffardi, O.13
-
61
-
-
0036071427
-
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
-
Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002;71:276-85.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 276-285
-
-
Giglio, S.1
Calvari, V.2
Gregato, G.3
Gimelli, G.4
Camanini, S.5
Giorda, R.6
Ragusa, A.7
Guerneri, S.8
Selicorni, A.9
Stumm, M.10
Tonnies, H.11
Ventura, M.12
Zollino, M.13
Neri, G.14
Barber, J.15
Wieczorek, D.16
Rocchi, M.17
Zuffardi, O.18
-
62
-
-
24544434662
-
Delineation of genomic breakpoints in chromosomal rearrangements: Lack of involvement of duplicated segments
-
Schwartz S, Astbury C, Bailey J, Crowe C, Eichler EE, Eichenmiller M, Graf M. Delineation of genomic breakpoints in chromosomal rearrangements: lack of involvement of duplicated segments. Am J Hum Genet 2003;73:A206.
-
(2003)
Am J Hum Genet
, vol.73
-
-
Schwartz, S.1
Astbury, C.2
Bailey, J.3
Crowe, C.4
Eichler, E.E.5
Eichenmiller, M.6
Graf, M.7
|