Silver K - Search Results

1

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.

Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME. Pratt VM, et al. Among authors: silver k. Am J Med Genet. 1995 Feb 13;55(4):402-4. doi: 10.1002/ajmg.1320550403. Am J Med Genet. 1995. PMID: 7539212

2

Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome.

Der Kaloustian VM, McIntosh N, Silver K, Blaichman S, Halal F. Der Kaloustian VM, et al. Among authors: silver k. Am J Med Genet. 1992 Aug 1;43(6):942-5. doi: 10.1002/ajmg.1320430607. Am J Med Genet. 1992. PMID: 1384331

3

King syndrome: further clinical variability and review of the literature.

Graham GE, Silver K, Arlet V, Der Kaloustian VM. Graham GE, et al. Among authors: silver k. Am J Med Genet. 1998 Jul 7;78(3):254-9. doi: 10.1002/(sici)1096-8628(19980707)78:3<254::aid-ajmg9>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9677061 Review.

4

Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1).

Collins KA, Eydoux P, Duncan AM, Ortenberg J, Silver K, Der Kaloustian VM. Collins KA, et al. Among authors: silver k. Am J Med Genet. 2000 Apr 24;91(5):345-7. doi: 10.1002/(sici)1096-8628(20000424)91:5<345::aid-ajmg4>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10766995

5

Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?

Halal F, Silver K. Halal F, et al. Among authors: silver k. Am J Med Genet. 1992 Feb 1;42(3):381-6. doi: 10.1002/ajmg.1320420328. Am J Med Genet. 1992. PMID: 1536185

6

Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis.

Chitayat D, Silver K, Azouz EM. Chitayat D, et al. Among authors: silver k. Am J Med Genet. 1992 Jun 1;43(3):517-23. doi: 10.1002/ajmg.1320430304. Am J Med Genet. 1992. PMID: 1605243

7

Slowly progressive macrocephaly with hamartomas: a new syndrome?

Halal F, Silver K. Halal F, et al. Among authors: silver k. Am J Med Genet. 1989 Jun;33(2):182-5. doi: 10.1002/ajmg.1320330209. Am J Med Genet. 1989. PMID: 2764028

8

Mucolipidosis type IV: clinical manifestations and natural history.

Chitayat D, Meunier CM, Hodgkinson KA, Silver K, Flanders M, Anderson IJ, Little JM, Whiteman DA, Carpenter S. Chitayat D, et al. Among authors: silver k. Am J Med Genet. 1991 Dec 1;41(3):313-8. doi: 10.1002/ajmg.1320410310. Am J Med Genet. 1991. PMID: 1789285

9

Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.

Mogensen M, Skjørringe T, Kodama H, Silver K, Horn N, Møller LB. Mogensen M, et al. Among authors: silver k. Orphanet J Rare Dis. 2011 Nov 10;6:73. doi: 10.1186/1750-1172-6-73. Orphanet J Rare Dis. 2011. PMID: 22074552 Free PMC article.

10

Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.

Chitayat D, Meagher-Villemure K, Mamer OA, O'Gorman A, Hoar DI, Silver K, Scriver CR. Chitayat D, et al. Among authors: silver k. J Pediatr. 1992 Jul;121(1):86-9. doi: 10.1016/s0022-3476(05)82549-1. J Pediatr. 1992. PMID: 1625099

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