207 related articles for article (PubMed ID: 25433523)
41. Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.
Jamsheer A; Sowińska-Seidler A; Socha M; Stembalska A; Kiraly-Borri C; Latos-Bieleńska A
Gene; 2014 Apr; 539(1):157-61. PubMed ID: 24508941
[TBL] [Abstract][Full Text] [Related]
42. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Martinez F; Marín-Reina P; Sanchis-Calvo A; Perez-Aytés A; Oltra S; Roselló M; Mayo S; Monfort S; Pantoja J; Orellana C
Pediatr Res; 2015 Nov; 78(5):533-9. PubMed ID: 26200704
[TBL] [Abstract][Full Text] [Related]
43. Floating Harbor syndrome. Case report and further syndrome delineation.
Midro AT; Olchowik B; Rogowska M; Hubert E; Hassman-Poznańska E; Papasz A; Szulc S; Wiśniewski A
Ann Genet; 1997; 40(3):133-8. PubMed ID: 9401100
[TBL] [Abstract][Full Text] [Related]
44. Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review.
Bo H; Jiang L; Zheng J; Sun J
Front Pediatr; 2021; 9():747353. PubMed ID: 34805044
[No Abstract] [Full Text] [Related]
45. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
White J; Mazzeu JF; Hoischen A; Jhangiani SN; Gambin T; Alcino MC; Penney S; Saraiva JM; Hove H; Skovby F; Kayserili H; Estrella E; Vulto-van Silfhout AT; Steehouwer M; Muzny DM; Sutton VR; Gibbs RA; ; Lupski JR; Brunner HG; van Bon BW; Carvalho CM
Am J Hum Genet; 2015 Apr; 96(4):612-22. PubMed ID: 25817016
[TBL] [Abstract][Full Text] [Related]
46. A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
Rejeb I; Ben Jemaa L; Abaied L; Kraoua L; Saillour Y; Maazoul F; Chelly J; Chaabouni H
Eur J Med Genet; 2011; 54(3):241-6. PubMed ID: 21315190
[TBL] [Abstract][Full Text] [Related]
47. PIK3R1 mutations in SHORT syndrome.
Schroeder C; Riess A; Bonin M; Bauer P; Riess O; Döbler-Neumann M; Wieser S; Moog U; Tzschach A
Clin Genet; 2014 Sep; 86(3):292-4. PubMed ID: 23980586
[TBL] [Abstract][Full Text] [Related]
48. Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report.
Jeon J; Noh ES; Hwang IT
J Clin Res Pediatr Endocrinol; 2024 Jan; ():. PubMed ID: 38230957
[TBL] [Abstract][Full Text] [Related]
49. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
White JJ; Mazzeu JF; Hoischen A; Bayram Y; Withers M; Gezdirici A; Kimonis V; Steehouwer M; Jhangiani SN; Muzny DM; Gibbs RA; ; van Bon BWM; Sutton VR; Lupski JR; Brunner HG; Carvalho CMB
Am J Hum Genet; 2016 Mar; 98(3):553-561. PubMed ID: 26924530
[TBL] [Abstract][Full Text] [Related]
50. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
Jamsheer A; Sowińska-Seidler A; Olech EM; Socha M; Kozłowski K; Pyrkosz A; Trzeciak T; Materna-Kiryluk A; Latos-Bieleńska A
J Hum Genet; 2016 May; 61(5):457-61. PubMed ID: 26763883
[TBL] [Abstract][Full Text] [Related]
51. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
Xin B; Puffenberger EG; Turben S; Tan H; Zhou A; Wang H
Proc Natl Acad Sci U S A; 2010 Jan; 107(1):258-63. PubMed ID: 20018682
[TBL] [Abstract][Full Text] [Related]
52. 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; Stumpel CT; Breuning MH; Wit JM
Horm Res; 2004; 62(4):197-207. PubMed ID: 15452385
[TBL] [Abstract][Full Text] [Related]
53. Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.
Duno M; Skovby F; Schwartz M
Ann Hum Genet; 2007 Nov; 71(Pt 6):713-8. PubMed ID: 17561922
[TBL] [Abstract][Full Text] [Related]
54. Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.
Tong TM; Hau EW; Lo IF; Chan DH; Lam ST
Chin Med J (Engl); 2005 Sep; 118(18):1499-506. PubMed ID: 16232326
[TBL] [Abstract][Full Text] [Related]
55. The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing.
Choi EM; Lee DH; Kang SJ; Shim YJ; Kim HS; Kim JS; Jeong JI; Ha JS; Jang JH
Korean J Pediatr; 2018 Dec; 61(12):403-406. PubMed ID: 30304910
[TBL] [Abstract][Full Text] [Related]
56. Generation of an induced pluripotent stem cell line from a Chinese Han infant with floating-harbor syndrome accompanied with dilated cardiomyopathy.
Hou C; Xie L; Qiu Q; Lin H; Liu W; Sun X; Zhang Y; Xu M; Li Y; Xiao T
Stem Cell Res; 2021 Mar; 51():102182. PubMed ID: 33517121
[TBL] [Abstract][Full Text] [Related]
57. Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome.
Pouliquen D; Goldenberg A; Hannequin D; Lecointre C; Lechevallier J; Cormier-Daire V; Martinaud O
J Clin Exp Neuropsychol; 2012; 34(5):445-52. PubMed ID: 22263687
[TBL] [Abstract][Full Text] [Related]
58. Growth hormone deficiency: an unusual presentation of floating harbor syndrome.
Galli-Tsinopoulou A; Kyrgios I; Emmanouilidou E; Maggana I; Kotanidou E; Kokka P; Stylianou C
Hormones (Athens); 2011; 10(3):236-40. PubMed ID: 22001135
[TBL] [Abstract][Full Text] [Related]
59. Floating-Harbor syndrome: case report.
Genc G; Sarac A; Erkek Atay N; Kulali F
Minerva Pediatr; 2008 Apr; 60(2):249-51. PubMed ID: 18449141
[TBL] [Abstract][Full Text] [Related]
60. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Girisha KM; Bidchol AM; Graul-Neumann L; Gupta A; Hehr U; Lessel D; Nader S; Shah H; Wickert J; Kutsche K
BMC Med Genet; 2016 Apr; 17():27. PubMed ID: 27048506
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]