Goldblatt J - Search Results

1

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

Goldblatt J, Hyatt J, Edwards C, Walpole I. Goldblatt J, et al. Am J Med Genet A. 2011 Apr;155A(4):717-20. doi: 10.1002/ajmg.a.33906. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21594992

2

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.

Baynam G, Goldblatt J, Walpole I. Baynam G, et al. Among authors: goldblatt j. Am J Med Genet A. 2008 Jun 15;146A(12):1565-70. doi: 10.1002/ajmg.a.32095. Am J Med Genet A. 2008. PMID: 18470924 Review.

3

Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome.

Walpole IR, Goldblatt J. Walpole IR, et al. Among authors: goldblatt j. Clin Genet. 1991 Feb;39(2):114-20. doi: 10.1111/j.1399-0004.1991.tb02996.x. Clin Genet. 1991. PMID: 2015692 Review.

4

Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?

Walpole IR, Goldblatt J, Hockey A, Knowles S. Walpole IR, et al. Among authors: goldblatt j. Am J Med Genet. 1991 Jun 1;39(3):294-8. doi: 10.1002/ajmg.1320390310. Am J Med Genet. 1991. PMID: 1867280

5

Evaluation of a project to enhance knowledge of hereditary diseases and management.

Walpole IR, Watson C, Moore D, Goldblatt J, Bower C. Walpole IR, et al. Among authors: goldblatt j. J Med Genet. 1997 Oct;34(10):831-7. doi: 10.1136/jmg.34.10.831. J Med Genet. 1997. PMID: 9350816 Free PMC article.

6

Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity?

Walpole IR, Nicoll A, Goldblatt J. Walpole IR, et al. Among authors: goldblatt j. Clin Genet. 1990 Oct;38(4):257-63. doi: 10.1111/j.1399-0004.1990.tb03578.x. Clin Genet. 1990. PMID: 2268972

7

Identification of two sporadically derived mutations in the Von Hippel-Lindau gene.

Martin RL, Walpole I, Goldblatt J. Martin RL, et al. Among authors: goldblatt j. Hum Mutat. 1996;7(2):185. doi: 10.1002/(SICI)1098-1004(1996)7:2<185::AID-HUMU22>3.0.CO;2-Y. Hum Mutat. 1996. PMID: 8829648 No abstract available.

8

Efficacy of gene testing for von Hippel-Lindau disease.

Martin RL, Goldblatt J, Walpole IR. Martin RL, et al. Among authors: goldblatt j. Med J Aust. 1998 Oct 19;169(8):422-4. doi: 10.5694/j.1326-5377.1998.tb126833.x. Med J Aust. 1998. PMID: 9830390

9

Expanding the phenotype of Filippi syndrome: a report of three cases.

Walpole IR, Parry T, Goldblatt J. Walpole IR, et al. Among authors: goldblatt j. Clin Dysmorphol. 1999 Oct;8(4):235-40. Clin Dysmorphol. 1999. PMID: 10532170

10

Population screening for cystic fibrosis in Western Australia: community response.

Honnor M, Zubrick SR, Walpole I, Bower C, Goldblatt J. Honnor M, et al. Among authors: goldblatt j. Am J Med Genet. 2000 Jul 31;93(3):198-204. doi: 10.1002/1096-8628(20000731)93:3<198::aid-ajmg7>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10925381

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