Wilson M - Search Results

1

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M. Wilson M, et al. Am J Med Genet A. 2003 Jun 15;119A(3):257-65. doi: 10.1002/ajmg.a.20053. Am J Med Genet A. 2003. PMID: 12784289

2

Distal 8p deletion (8p23.1----8pter): a common deletion?

Hutchinson R, Wilson M, Voullaire L. Hutchinson R, et al. Among authors: wilson m. J Med Genet. 1992 Jun;29(6):407-11. doi: 10.1136/jmg.29.6.407. J Med Genet. 1992. PMID: 1619636 Free PMC article.

3

Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis.

Ogle RF, Wilson MJ, Kozlowski K, Sillence DO. Ogle RF, et al. Among authors: wilson mj. Am J Med Genet. 1994 Jul 1;51(3):216-21. doi: 10.1002/ajmg.1320510308. Am J Med Genet. 1994. PMID: 8074147

4

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Adès LC, Chia NL, Wilson MJ. Mowat DR, et al. Among authors: wilson mj. J Med Genet. 1998 Aug;35(8):617-23. doi: 10.1136/jmg.35.8.617. J Med Genet. 1998. PMID: 9719364 Free PMC article.

5

Imperforate anus in Feingold syndrome.

Büttiker V, Wojtulewicz J, Wilson M. Büttiker V, et al. Among authors: wilson m. Am J Med Genet. 2000 May 29;92(3):166-9. doi: 10.1002/(sici)1096-8628(20000529)92:3<166::aid-ajmg2>3.0.co;2-#. Am J Med Genet. 2000. PMID: 10817649

6

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M. Cacheux V, et al. Among authors: wilson m. Hum Mol Genet. 2001 Jul 1;10(14):1503-10. doi: 10.1093/hmg/10.14.1503. Hum Mol Genet. 2001. PMID: 11448942

7

Mowat-Wilson syndrome.

Mowat DR, Wilson MJ, Goossens M. Mowat DR, et al. Among authors: wilson mj. J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. J Med Genet. 2003. PMID: 12746390 Free PMC article. Review.

8

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.

Vlangos CN, Wilson M, Blancato J, Smith AC, Elsea SH. Vlangos CN, et al. Among authors: wilson m. Am J Med Genet A. 2005 Jan 30;132A(3):278-82. doi: 10.1002/ajmg.a.30461. Am J Med Genet A. 2005. PMID: 15690371

9

The adult phenotype in Costello syndrome.

White SM, Graham JM Jr, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. White SM, et al. Among authors: wilson m. Am J Med Genet A. 2005 Jul 15;136(2):128-35. doi: 10.1002/ajmg.a.30747. Am J Med Genet A. 2005. PMID: 15940703

10

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens M. McGaughran J, et al. Among authors: wilson m. Am J Med Genet A. 2005 Sep 1;137A(3):302-4. doi: 10.1002/ajmg.a.30896. Am J Med Genet A. 2005. PMID: 16088920

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