Winter RM - Search Results

1

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

Crow YJ, Massey RF, Innes JR, Pairaudeau PW, Rowland Hill CA, Woods CG, Ali M, Livingston JH, Lebon P, Nischall K, McEntagart M, Hindocha N, Winter RM. Crow YJ, et al. Among authors: winter rm. Am J Med Genet A. 2004 Sep 1;129A(3):303-7. doi: 10.1002/ajmg.a.30250. Am J Med Genet A. 2004. PMID: 15326633

2

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.

3

The 3-M syndrome.

Winter RM, Baraitser M, Grant DB, Preece MA, Hall CM. Winter RM, et al. J Med Genet. 1984 Apr;21(2):124-8. doi: 10.1136/jmg.21.2.124. J Med Genet. 1984. PMID: 6716411 Free PMC article.

4

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.

5

Clinical phenotype of desmosterolosis.

FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT. FitzPatrick DR, et al. Among authors: winter rm. Am J Med Genet. 1998 Jan 13;75(2):145-52. Am J Med Genet. 1998. PMID: 9450875

6

No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.

de Vries BB, Tyson J, Winter RM, Malcolm S. de Vries BB, et al. Among authors: winter rm. Am J Med Genet. 2002 Apr 22;109(2):117-20. doi: 10.1002/ajmg.10318. Am J Med Genet. 2002. PMID: 11977159

7

Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22.

Cullen P, Rodgers CS, Callen DF, Connolly VM, Eyre H, Fells P, Gordon H, Winter RM, Thakker RV. Cullen P, et al. Among authors: winter rm. Am J Med Genet. 1993 Nov 1;47(6):925-30. doi: 10.1002/ajmg.1320470623. Am J Med Genet. 1993. PMID: 8279492

8

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P. Goodman F, et al. Am J Hum Genet. 1998 Oct;63(4):992-1000. doi: 10.1086/302070. Am J Hum Genet. 1998. PMID: 9758628 Free PMC article.

9

Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.

Hurst JA, Winter RM, Baraitser M. Hurst JA, et al. Among authors: winter rm. Am J Med Genet. 1988 Jan;29(1):107-15. doi: 10.1002/ajmg.1320290113. Am J Med Genet. 1988. PMID: 3344763

10

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.

Reardon W, Gibbons RJ, Winter RM, Baraitser M. Reardon W, et al. Among authors: winter rm. Am J Med Genet. 1995 Jan 30;55(3):285-7. doi: 10.1002/ajmg.1320550308. Am J Med Genet. 1995. PMID: 7726224

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