Bamforth JS - Search Results

1

RE: An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study [Issekutz et al., 2005].

Lowry RB, Sibbald B, Bamforth JS. Lowry RB, et al. Among authors: bamforth js. Am J Med Genet A. 2005 Dec 1;139A(2):169; discussion 170-1. doi: 10.1002/ajmg.a.30992. Am J Med Genet A. 2005. PMID: 16278895 No abstract available.

2

Extreme growth failure is a common presentation of ligase IV deficiency.

Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. Murray JE, et al. Among authors: bamforth js. Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8. Hum Mutat. 2014. PMID: 24123394 Free PMC article.

3

Adams Oliver syndrome: a family with extreme variability in clinical expression.

Bamforth JS, Kaurah P, Byrne J, Ferreira P. Bamforth JS, et al. Am J Med Genet. 1994 Feb 15;49(4):393-6. doi: 10.1002/ajmg.1320490408. Am J Med Genet. 1994. PMID: 8160731

4

Polytopic anomalies with agenesis of the lower vertebral column.

Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, Köpernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz JM. Bohring A, et al. Among authors: bamforth js. Am J Med Genet. 1999 Nov 19;87(2):99-114. Am J Med Genet. 1999. PMID: 10533024 Review.

5

Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies.

Bamforth JS, Kaurah P. Bamforth JS, et al. Am J Med Genet. 1992 Aug 1;43(6):932-7. doi: 10.1002/ajmg.1320430605. Am J Med Genet. 1992. PMID: 1415342

6

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

Bamforth JS, Leonard CO, Chodirker BN, Chitayat D, Gritter HL, Evans JA, Keena B, Pantzar T, Friedman JM, Hall JG. Bamforth JS, et al. Am J Med Genet. 1989 Jan;32(1):93-9. doi: 10.1002/ajmg.1320320120. Am J Med Genet. 1989. PMID: 2650550

7

Soft tissue facial resemblance in families and syndrome-affected individuals.

Shaner DJ, Peterson AE, Beattie OB, Bamforth JS. Shaner DJ, et al. Among authors: bamforth js. Am J Med Genet. 2001 Sep 1;102(4):330-41. doi: 10.1002/ajmg.1491. Am J Med Genet. 2001. PMID: 11503160

8

DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).

Bamforth JS, Lin CC. Bamforth JS, et al. Am J Med Genet. 1997 Dec 31;73(4):408-11. Am J Med Genet. 1997. PMID: 9415466 Review.

9

Assessment of soft tissue facial asymmetry in medically normal and syndrome-affected individuals by analysis of landmarks and measurements.

Shaner DJ, Peterson AE, Beattie OB, Bamforth JS. Shaner DJ, et al. Among authors: bamforth js. Am J Med Genet. 2000 Jul 17;93(2):143-54. doi: 10.1002/1096-8628(20000717)93:2<143::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10869118

10

Poland anomaly with a limb body wall disruption defect: case report and review.

Bamforth JS, Fabian C, Machin G, Honore L. Bamforth JS, et al. Am J Med Genet. 1992 Jul 15;43(5):780-4. doi: 10.1002/ajmg.1320430504. Am J Med Genet. 1992. PMID: 1642261 Review.

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