Young ID - Search Results

1

Prenatal diagnosis of a defect in medium-chain fatty acid oxidation.

Pollitt RJ, Manning NJ, Olpin SE, Young ID. Pollitt RJ, et al. Among authors: young id. J Inherit Metab Dis. 1994;17(3):279-82. doi: 10.1007/BF00711807. J Inherit Metab Dis. 1994. PMID: 7807933 No abstract available.

2

Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.

Manning NJ, Olpin SE, Pollitt RJ, Downing M, Heeley AF, Young ID. Manning NJ, et al. Among authors: young id. J Inherit Metab Dis. 2000 Nov;23(7):757-9. doi: 10.1023/a:1005667906032. J Inherit Metab Dis. 2000. PMID: 11117439 No abstract available.

3

Family size limitation: a method for demonstrating recessive inheritance.

Brookfield JF, Pollitt RJ, Young ID. Brookfield JF, et al. Among authors: young id. J Med Genet. 1988 Mar;25(3):181-5. doi: 10.1136/jmg.25.3.181. J Med Genet. 1988. PMID: 3351905 Free PMC article.

4

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.

Edwards SJ, Fowlie A, Cust MP, Liu DT, Young ID, Dixon MJ. Edwards SJ, et al. Among authors: young id. J Med Genet. 1996 Jul;33(7):603-6. doi: 10.1136/jmg.33.7.603. J Med Genet. 1996. PMID: 8818950 Free PMC article.

5

Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations.

Parker MJ, Budd JL, Draper ES, Young ID. Parker MJ, et al. Among authors: young id. Prenat Diagn. 2003 Oct;23(10):856-60. doi: 10.1002/pd.707. Prenat Diagn. 2003. PMID: 14558033

6

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, et al. Foster JW, et al. Among authors: young id. Nature. 1994 Dec 8;372(6506):525-30. doi: 10.1038/372525a0. Nature. 1994. PMID: 7990924

7

Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome?

Parker MJ, Groggins RC, Rees PG, Young ID. Parker MJ, et al. Among authors: young id. Clin Dysmorphol. 1998 Jul;7(3):205-8. doi: 10.1097/00019605-199807000-00009. Clin Dysmorphol. 1998. PMID: 9689995

8

Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21----qter).

Duckett DP, Roberts E, McKeever P, Young ID. Duckett DP, et al. Among authors: young id. Prenat Diagn. 1990 Apr;10(4):261-4. doi: 10.1002/pd.1970100409. Prenat Diagn. 1990. PMID: 2367342

9

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q.

Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD. Terrett JA, et al. Among authors: young id. Nat Genet. 1994 Apr;6(4):401-4. doi: 10.1038/ng0494-401. Nat Genet. 1994. PMID: 8054982

10

Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation.

Smith SA, Martin KE, Dodd KL, Young ID. Smith SA, et al. Among authors: young id. Clin Dysmorphol. 1994 Oct;3(4):287-91. Clin Dysmorphol. 1994. PMID: 7894732 Review.

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