-
1
-
-
0026023362
-
Intelligence and educational level in adult males at the extremes of stature
-
Teasdale TW, Owen DR, Sorensen TI: Intelligence and educational level in adult males at the extremes of stature. Hum Biol 1991;63:19-30.
-
(1991)
Hum Biol
, vol.63
, pp. 19-30
-
-
Teasdale, T.W.1
Owen, D.R.2
Sorensen, T.I.3
-
2
-
-
0026218421
-
The good body: When big is better
-
Cassidy CM: The good body: when big is better. Med Anthropol 1991;13:181-213.
-
(1991)
Med Anthropol
, vol.13
, pp. 181-213
-
-
Cassidy, C.M.1
-
3
-
-
0028917329
-
Evaluating tall children
-
Leung AK, Robson WL: Evaluating tall children. Can Fam Physician 1995;41:457-458, 461-462, 465-468.
-
(1995)
Can Fam Physician
, vol.41
, pp. 457-458
-
-
Leung, A.K.1
Robson, W.L.2
-
4
-
-
0030735196
-
Psychological indications for treatment of tall stature in adolescent girls
-
Lecointre C, Toublanc JE: Psychological indications for treatment of tall stature in adolescent girls. J Pediatr Endocrinol Metab 1997;10:529-531.
-
(1997)
J Pediatr Endocrinol Metab
, vol.10
, pp. 529-531
-
-
Lecointre, C.1
Toublanc, J.E.2
-
5
-
-
0034884542
-
International Workshop on Management of Puberty for Optimum Auxological Results. Current concepts in tall stature and overgrowth syndromes
-
Drop SL, Greggio N, Cappa M, Bernasconi S: International Workshop on Management of Puberty for Optimum Auxological Results. Current concepts in tall stature and overgrowth syndromes. J Pediatr Endocrinol Metab 2001;14(suppl 2):975-984.
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, Issue.2 SUPPL.
, pp. 975-984
-
-
Drop, S.L.1
Greggio, N.2
Cappa, M.3
Bernasconi, S.4
-
6
-
-
0030265840
-
Overgrowth. Section I. Overgrowth disorders
-
Phila
-
Sotos JF: Overgrowth. Section I. Overgrowth disorders. Clin Pediatr (Phila) 1996;35:517-529.
-
(1996)
Clin Pediatr
, vol.35
, pp. 517-529
-
-
Sotos, J.F.1
-
7
-
-
0023633340
-
Evaluation of growth disorders in children
-
Cuttler L: Evaluation of growth disorders in children. Pediatrician 1987;14:109-120.
-
(1987)
Pediatrician
, vol.14
, pp. 109-120
-
-
Cuttler, L.1
-
9
-
-
0033286370
-
Overgrowth syndromes: An update
-
Cohen MM Jr: Overgrowth syndromes: an update. Adv Pediatr 1999;46:441-491.
-
(1999)
Adv Pediatr
, vol.46
, pp. 441-491
-
-
Cohen Jr., M.M.1
-
11
-
-
84882074599
-
The KIGS aetiology classification system
-
Ranke MB, Gunnarsson R (eds): Mannheim, J&J Verlag
-
Ranke MB: The KIGS aetiology classification system; in Ranke MB, Gunnarsson R (eds): Progress in Growth Hormone Therapy - 5 Years of KIGS. Mannheim, J&J Verlag, 1994, pp 51-61.
-
(1994)
Progress in Growth Hormone Therapy - 5 Years of KIGS
, pp. 51-61
-
-
Ranke, M.B.1
-
12
-
-
0029974432
-
Towards a consensus on the definition of idiopathic short stature
-
Ranke MB: Towards a consensus on the definition of idiopathic short stature. Horm Res 1996;45(suppl 2):64-66.
-
(1996)
Horm Res
, vol.45
, Issue.2 SUPPL.
, pp. 64-66
-
-
Ranke, M.B.1
-
13
-
-
0018166951
-
Diagnosis of treatable types of short and tall stature
-
Zachmann M: Diagnosis of treatable types of short and tall stature. Postgrad Med J 1978;54(suppl 1):121-132.
-
(1978)
Postgrad Med J
, vol.54
, Issue.1 SUPPL.
, pp. 121-132
-
-
Zachmann, M.1
-
14
-
-
0026699433
-
Intrauterine growth retardation and familial short stature
-
Heinrich UE: Intrauterine growth retardation and familial short stature. Baillières Clin Endocrinol Metab 1992;6:589-601.
-
(1992)
Baillières Clin Endocrinol Metab
, vol.6
, pp. 589-601
-
-
Heinrich, U.E.1
-
15
-
-
0035133355
-
SHOX haploinsufficiency and overdosage: Impact of gonadal function status
-
Ogata T, Matsuo N, Nishimura G: SHOX haploinsufficiency and overdosage: impact of gonadal function status. J Med Genet 2001;38:1-6.
-
(2001)
J Med Genet
, vol.38
, pp. 1-6
-
-
Ogata, T.1
Matsuo, N.2
Nishimura, G.3
-
16
-
-
0030639722
-
Overgrowth. Section IV. Genetic disorders associated with overgrowth
-
Phila
-
Sotos JF: Overgrowth. Section IV. Genetic disorders associated with overgrowth. Clin Pediatr (Phila) 1997;36:39-49.
-
(1997)
Clin Pediatr
, vol.36
, pp. 39-49
-
-
Sotos, J.F.1
-
17
-
-
0004197734
-
-
Oxford/New York, Oxford University Press
-
Cohen MM Jr, Neri G, Weksberg R: Overgrowth Syndromes, ed 1. Oxford/New York, Oxford University Press, 2002.
-
(2002)
Overgrowth Syndromes, Ed 1.
-
-
Cohen Jr., M.M.1
Neri, G.2
Weksberg, R.3
-
18
-
-
9144269782
-
Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene
-
Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB: Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene. J Clin Endocrinol Metab 2003;88:5981-5988.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 5981-5988
-
-
Okubo, Y.1
Siddle, K.2
Firth, H.3
O'Rahilly, S.4
Wilson, L.C.5
Willatt, L.6
Fukushima, T.7
Takahashi, S.8
Petry, C.J.9
Saukkonen, T.10
Stanhope, R.11
Dunger, D.B.12
-
19
-
-
0037389185
-
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development
-
Weksberg R, Smith AC, Squire J, Sadowski P: Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 2003;12:R61-R68.
-
(2003)
Hum Mol Genet
, vol.12
-
-
Weksberg, R.1
Smith, A.C.2
Squire, J.3
Sadowski, P.4
-
20
-
-
0032792244
-
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction
-
Gyftodimou J, Karadima G, Pandelia E, Vassilopoulos D, Petersen MB: Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clin Genet 1999;55:483-486.
-
(1999)
Clin Genet
, vol.55
, pp. 483-486
-
-
Gyftodimou, J.1
Karadima, G.2
Pandelia, E.3
Vassilopoulos, D.4
Petersen, M.B.5
-
21
-
-
0031784722
-
Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q
-
Fridman C, Varela MC, Nicholls RD, Koiffmann CP: Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q. Clin Genet 1998;54:303-308.
-
(1998)
Clin Genet
, vol.54
, pp. 303-308
-
-
Fridman, C.1
Varela, M.C.2
Nicholls, R.D.3
Koiffmann, C.P.4
-
22
-
-
0029741180
-
Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia - Are there 'hot spots' on COL2A1?
-
Bleasel JF, Holderbaum D, Mallock V, Haqqi TM, Williams HJ, Moskowitz RW: Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia - are there 'hot spots' on COL2A1? J Rheumatol 1996;23:1594-1598.
-
(1996)
J Rheumatol
, vol.23
, pp. 1594-1598
-
-
Bleasel, J.F.1
Holderbaum, D.2
Mallock, V.3
Haqqi, T.M.4
Williams, H.J.5
Moskowitz, R.W.6
-
23
-
-
0041630893
-
The natural history of sclerosteosis
-
Erratum in Clin Genet 2003;64:176
-
Hamersma H, Gardner J, Beighton P: The natural history of sclerosteosis. Clin Genet 2003;63:192-197. Erratum in Clin Genet 2003;64:176.
-
(2003)
Clin Genet
, vol.63
, pp. 192-197
-
-
Hamersma, H.1
Gardner, J.2
Beighton, P.3
-
24
-
-
0028916610
-
The mucopolysaccharidoses: A clinical review and guide to management
-
Wraith JE: The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 1995;72:263-267.
-
(1995)
Arch Dis Child
, vol.72
, pp. 263-267
-
-
Wraith, J.E.1
-
25
-
-
0032719681
-
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)
-
Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L: Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Neuropediatrics 1999;30:270-274.
-
(1999)
Neuropediatrics
, vol.30
, pp. 270-274
-
-
Barone, R.1
Nigro, F.2
Triulzi, F.3
Musumeci, S.4
Fiumara, A.5
Pavone, L.6
-
26
-
-
0037110974
-
International nosology and classification of constitutional disorders of bone (2001)
-
Hall CM: International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002;113:65-77.
-
(2002)
Am J Med Genet
, vol.113
, pp. 65-77
-
-
Hall, C.M.1
-
27
-
-
0030278693
-
Overgrowth. Section II. Hormonal Causes
-
Phila
-
Sotos JF: Overgrowth. Section II. Hormonal Causes. Clin Pediatr (Phila) 1996;35:579-590.
-
(1996)
Clin Pediatr
, vol.35
, pp. 579-590
-
-
Sotos, J.F.1
-
28
-
-
1842509098
-
Five-year follow-up of a 13-year-old boy with a pituitary adenoma causing gigantism - Effect of octreotide therapy
-
Schoof E, Dorr HG, Kiess W, Ludecke DK, Freitag E, Zindel V, Rascher W, Dotsch J: Five-year follow-up of a 13-year-old boy with a pituitary adenoma causing gigantism - effect of octreotide therapy. Horm Res 2004;61:184-189.
-
(2004)
Horm Res
, vol.61
, pp. 184-189
-
-
Schoof, E.1
Dorr, H.G.2
Kiess, W.3
Ludecke, D.K.4
Freitag, E.5
Zindel, V.6
Rascher, W.7
Dotsch, J.8
-
29
-
-
2442473829
-
Activating Gsα mutations: Analysis of 113 patients with signs of McCune-Albright syndrome - A European Collaborative Study
-
Lumbroso S, Paris F, Sultan C: Activating Gsα mutations: analysis of 113 patients with signs of McCune-Albright syndrome - a European Collaborative Study. J Clin Endocrinol Metab 2004;89:2107-2113.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 2107-2113
-
-
Lumbroso, S.1
Paris, F.2
Sultan, C.3
-
31
-
-
0036155670
-
Leydig cell hypoplasia: Cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene
-
Oxf
-
Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP: Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clin Endocrinol (Oxf) 2002;56:103-112.
-
(2002)
Clin Endocrinol
, vol.56
, pp. 103-112
-
-
Richter-Unruh, A.1
Martens, J.W.2
Verhoef-Post, M.3
Wessels, H.T.4
Kors, W.A.5
Sinnecker, G.H.6
Boehmer, A.7
Drop, S.L.8
Toledo, S.P.9
Brunner, H.G.10
Themmen, A.P.11
-
32
-
-
0041341792
-
Role of estrogen and androgen in pubertal skeletal physiology
-
Frank GR: Role of estrogen and androgen in pubertal skeletal physiology. Med Pediatr Oncol 2003;41:217-221.
-
(2003)
Med Pediatr Oncol
, vol.41
, pp. 217-221
-
-
Frank, G.R.1
-
34
-
-
6344263978
-
Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome
-
Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP: Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am J Hum Genet 2004;75:844-849.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 844-849
-
-
Niemitz, E.L.1
DeBaun, M.R.2
Fallon, J.3
Murakami, K.4
Kugoh, H.5
Oshimura, M.6
Feinberg, A.P.7
-
35
-
-
4444365791
-
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
-
Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A: Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet 2004;36:958-960.
-
(2004)
Nat Genet
, vol.36
, pp. 958-960
-
-
Sparago, A.1
Cerrato, F.2
Vernucci, M.3
Ferrero, G.B.4
Silengo, M.C.5
Riccio, A.6
-
36
-
-
0031956224
-
Insulin-like growth factor 2 and overgrowth: Molecular biology and clinical implications
-
Morisson IM, Reeve, AE: Insulin-like growth factor 2 and overgrowth: molecular biology and clinical implications. Mol Med Today 1998;4:110-115.
-
(1998)
Mol Med Today
, vol.4
, pp. 110-115
-
-
Morisson, I.M.1
Reeve, A.E.2
-
37
-
-
0033794585
-
Tall stature in familial glucocorticoid deficiency
-
Oxf
-
Elias LL, Huebner A, Metherell LA, Canas A, Warne GL, Bitti ML, Cianfarani S, Clayton PE, Savage MO, Clark AJ: Tall stature in familial glucocorticoid deficiency. Clin Endocrinol (Oxf) 2000;53:423-430.
-
(2000)
Clin Endocrinol
, vol.53
, pp. 423-430
-
-
Elias, L.L.1
Huebner, A.2
Metherell, L.A.3
Canas, A.4
Warne, G.L.5
Bitti, M.L.6
Cianfarani, S.7
Clayton, P.E.8
Savage, M.O.9
Clark, A.J.10
-
38
-
-
0035682076
-
Growth abnormalities associated with adrenal disorders and their management
-
Savage MO, Lebrethon MC, Blair JC, Ho JT, Johnston LB, Lienhardt A, Clark AJ, Chaussain JL: Growth abnormalities associated with adrenal disorders and their management. Horm Res 2001;56(suppl 1):19-23.
-
(2001)
Horm Res
, vol.56
, Issue.1 SUPPL.
, pp. 19-23
-
-
Savage, M.O.1
Lebrethon, M.C.2
Blair, J.C.3
Ho, J.T.4
Johnston, L.B.5
Lienhardt, A.6
Clark, A.J.7
Chaussain, J.L.8
-
39
-
-
0032475859
-
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome
-
Neri G, Gurrieri F, Zanni G, Lin A: Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. Am J Med Genet 1998;79:279-283.
-
(1998)
Am J Med Genet
, vol.79
, pp. 279-283
-
-
Neri, G.1
Gurrieri, F.2
Zanni, G.3
Lin, A.4
-
40
-
-
0042415426
-
Genotype/phenotype correlations of males affected by Simpson-Golabi- Behmel syndrome with GPC3 gene mutations: Patient report and review of the literature
-
Mariani S, Iughetti L, Bertorelli R, Coviello D, Pellegrini M, Forabosco A, Bernasconi S: Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. J Pediatr Endocrinol Metab 2003;16:225-232.
-
(2003)
J Pediatr Endocrinol Metab
, vol.16
, pp. 225-232
-
-
Mariani, S.1
Iughetti, L.2
Bertorelli, R.3
Coviello, D.4
Pellegrini, M.5
Forabosco, A.6
Bernasconi, S.7
-
41
-
-
0032191961
-
GPC4, the gene for human K-glypican, flanks GPC3 on xq26: Deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome
-
Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G: GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics 1998;53:1-11.
-
(1998)
Genomics
, vol.53
, pp. 1-11
-
-
Veugelers, M.1
Vermeesch, J.2
Watanabe, K.3
Yamaguchi, Y.4
Marynen, P.5
David, G.6
-
42
-
-
0035425730
-
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
-
Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R: GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet 2001;102:161-168.
-
(2001)
Am J Med Genet
, vol.102
, pp. 161-168
-
-
Li, M.1
Shuman, C.2
Fei, Y.L.3
Cutiongco, E.4
Bender, H.A.5
Stevens, C.6
Wilkins-Haug, L.7
Day-Salvatore, D.8
Yong, S.L.9
Geraghty, M.T.10
Squire, J.11
Weksberg, R.12
-
43
-
-
0037217478
-
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
-
Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003;72:132-143.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 132-143
-
-
Douglas, J.1
Hanks, S.2
Temple, I.K.3
Davies, S.4
Murray, A.5
Upadhyaya, M.6
Tomkins, S.7
Hughes, H.E.8
Cole, T.R.9
Rahman, N.10
-
44
-
-
0038207021
-
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
-
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V: Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003;40:436-440.
-
(2003)
J Med Genet
, vol.40
, pp. 436-440
-
-
Rio, M.1
Clech, L.2
Amiel, J.3
Faivre, L.4
Lyonnet, S.5
Le Merrer, M.6
Odent, S.7
Lacombe, D.8
Edery, P.9
Brauner, R.10
Raoul, O.11
Gosset, P.12
Prieur, M.13
Vekemans, M.14
Munnich, A.15
Colleaux, L.16
Cormier-Daire, V.17
-
45
-
-
7544229749
-
Genotype-phenotype correlation in patients suspected of having Sotos syndrome
-
De Boer L, Kant SG, Karperien M, Van Beers L, Tjon J, Vink GR, Van Tol D, Dauwerse H, Le Cessie S, Beemer FA, Van Der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Schrander Stumpel CT, Breuning MH, Wit JM: Genotype-phenotype correlation in patients suspected of having Sotos syndrome. Horm Res 2004;62:197-207.
-
(2004)
Horm Res
, vol.62
, pp. 197-207
-
-
De Boer, L.1
Kant, S.G.2
Karperien, M.3
Van Beers, L.4
Tjon, J.5
Vink, G.R.6
Van Tol, D.7
Dauwerse, H.8
Le Cessie, S.9
Beemer, F.A.10
Van Der Burgt, I.11
Hamel, B.C.12
Hennekam, R.C.13
Kuhnle, U.14
Mathijssen, I.B.15
Veenstra-Knol, H.E.16
Schrander Stumpel, C.T.17
Breuning, M.H.18
Wit, J.M.19
-
46
-
-
0036024994
-
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
-
Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T: Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 2002;20:153-161.
-
(2002)
Hum Mutat
, vol.20
, pp. 153-161
-
-
Robinson, P.N.1
Booms, P.2
Katzke, S.3
Ladewig, M.4
Neumann, L.5
Palz, M.6
Pregla, R.7
Tiecke, F.8
Rosenberg, T.9
-
47
-
-
0035141446
-
Classic, atypically severe and neonatal Marfan syndrome: Twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
-
Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hovels-Gurich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T: Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet 2001;9:13-21.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 13-21
-
-
Tiecke, F.1
Katzke, S.2
Booms, P.3
Robinson, P.N.4
Neumann, L.5
Godfrey, M.6
Mathews, K.R.7
Scheuner, M.8
Hinkel, G.K.9
Brenner, R.E.10
Hovels-Gurich, H.H.11
Hagemeier, C.12
Fuchs, J.13
Skovby, F.14
Rosenberg, T.15
-
48
-
-
0021894152
-
The natural history of homocystinuria due to cystathionine β-synthase deficiency
-
Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GH, Bromberg IL, Cerone R, Fowler B, Grobe H, Schmidt H, Schweitzer L: The natural history of homocystinuria due to cystathionine β-synthase deficiency. Am J Hum Genet 1985;37:1-31.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 1-31
-
-
Mudd, S.H.1
Skovby, F.2
Levy, H.L.3
Pettigrew, K.D.4
Wilcken, B.5
Pyeritz, R.E.6
Andria, G.7
Boers, G.H.8
Bromberg, I.L.9
Cerone, R.10
Fowler, B.11
Grobe, H.12
Schmidt, H.13
Schweitzer, L.14
-
49
-
-
0036327069
-
The molecular basis of cystathionine β-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment
-
Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DE: The molecular basis of cystathionine β-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat 2002;20:117-126.
-
(2002)
Hum Mutat
, vol.20
, pp. 117-126
-
-
Gaustadnes, M.1
Wilcken, B.2
Oliveriusova, J.3
McGill, J.4
Fletcher, J.5
Kraus, J.P.6
Wilcken, D.E.7
-
50
-
-
0029160737
-
Growth in stature in fragile X families: A mixed longitudinal study
-
Loesch DZ, Huggins RM, Hoang NH: Growth in stature in fragile X families: a mixed longitudinal study. Am J Med Genet 1995;58:249-256.
-
(1995)
Am J Med Genet
, vol.58
, pp. 249-256
-
-
Loesch, D.Z.1
Huggins, R.M.2
Hoang, N.H.3
-
51
-
-
27144555231
-
The fragile-X syndrome: Physical phenotype
-
New York, Oxford University Press
-
Sutherland GR, Hecht F: The fragile-X syndrome: physical phenotype; in Fragile Sites on Human Chromosomes. New York, Oxford University Press, 1985, pp 132-49.
-
(1985)
Fragile Sites on Human Chromosomes
, pp. 132-149
-
-
Sutherland, G.R.1
Hecht, F.2
-
52
-
-
0029117990
-
General overgrowth in the fragile X syndrome: Variability in the phenotypic expression of the FMR1 gene mutation
-
De Vries BB, Robinson H, Stolte-Dijkstra I, Tjon Pian Gi CV, Dijkstra PF, van Doorn J, Halley DJ, Oostra BA, Turner G, Niermeijer MF: General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation. J Med Genet 1995;32:764-769.
-
(1995)
J Med Genet
, vol.32
, pp. 764-769
-
-
De Vries, B.B.1
Robinson, H.2
Stolte-Dijkstra, I.3
Tjon Pian Gi, C.V.4
Dijkstra, P.F.5
Van Doorn, J.6
Halley, D.J.7
Oostra, B.A.8
Turner, G.9
Niermeijer, M.F.10
-
53
-
-
0842306874
-
Diagnostic approach and therapy of overgrowth and tall stature in childhood
-
Iughetti L, Bergomi A, Bernasconi S: Diagnostic approach and therapy of overgrowth and tall stature in childhood. Minerva Pediatr 2003;55:563-582.
-
(2003)
Minerva Pediatr
, vol.55
, pp. 563-582
-
-
Iughetti, L.1
Bergomi, A.2
Bernasconi, S.3
-
54
-
-
12144288309
-
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
-
Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L: Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 2004;74:715-720.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 715-720
-
-
Baujat, G.1
Rio, M.2
Rossignol, S.3
Sanlaville, D.4
Lyonnet, S.5
Le Merrer, M.6
Munnich, A.7
Gicquel, C.8
Cormier-Daire, V.9
Colleaux, L.10
-
55
-
-
0032475951
-
Nonsyndromal overgrowth in males with mild psychomotor delay
-
Neri G, Steindl K, Mazzei A, Battaglia A, Cappa M: Nonsyndromal overgrowth in males with mild psychomotor delay. Am J Med Genet 1998;79:291-293.
-
(1998)
Am J Med Genet
, vol.79
, pp. 291-293
-
-
Neri, G.1
Steindl, K.2
Mazzei, A.3
Battaglia, A.4
Cappa, M.5
-
56
-
-
10744226545
-
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
-
Turkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D: Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet 2003;11:858-865.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 858-865
-
-
Turkmen, S.1
Gillessen-Kaesbach, G.2
Meinecke, P.3
Albrecht, B.4
Neumann, L.M.5
Hesse, V.6
Palanduz, S.7
Balg, S.8
Majewski, F.9
Fuchs, S.10
Zschieschang, P.11
Greiwe, M.12
Mennicke, K.13
Kreuz, F.R.14
Dehmel, H.J.15
Rodeck, B.16
Kunze, J.17
Tinschert, S.18
Mundlos, S.19
Horn, D.20
more..
-
57
-
-
0022470737
-
The Wiedemann-Beckwith syndrome: Pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity
-
Niikawa N, Ishikiriyama S, Takahashi S, Inagawa A, Tonoki H, Ohta Y, Hase N, Kamei T, Kajii T: The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. Am J Med Genet 1986;24:41-55.
-
(1986)
Am J Med Genet
, vol.24
, pp. 41-55
-
-
Niikawa, N.1
Ishikiriyama, S.2
Takahashi, S.3
Inagawa, A.4
Tonoki, H.5
Ohta, Y.6
Hase, N.7
Kamei, T.8
Kajii, T.9
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