Jeffery S - Search Results

1

Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations.

Crosby A, Jeffery S, Homfray T, Taylor R, Patton M. Crosby A, et al. Among authors: jeffery s. Genet Test. 1999;3(3):305-7. doi: 10.1089/109065799316644. Genet Test. 1999. PMID: 10495932

2

Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

Afzal AR, Florêncio RN, Taylor R, Patton MA, Saggar-Malik A, Jeffery S. Afzal AR, et al. Among authors: jeffery s. Genet Test. 2000;4(4):365-70. doi: 10.1089/109065700750065108. Genet Test. 2000. PMID: 11216660

3

Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.

Bell R, Murday VA, Patton MA, Jeffery S. Bell R, et al. Among authors: jeffery s. Genet Test. 2001 Winter;5(4):335-8. doi: 10.1089/109065701753617499. Genet Test. 2001. PMID: 11960581

4

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

Connell F, Kalidas K, Ostergaard P, Brice G, Homfray T, Roberts L, Bunyan DJ, Mitton S, Mansour S, Mortimer P, Jeffery S; Lymphoedema Consortium. Connell F, et al. Among authors: jeffery s. Hum Genet. 2010 Feb;127(2):231-41. doi: 10.1007/s00439-009-0766-y. Epub 2009 Nov 13. Hum Genet. 2010. PMID: 19911200

5

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.

Harrar HS, Jeffery S, Patton MA. Harrar HS, et al. Among authors: jeffery s. J Med Genet. 1995 Oct;32(10):774-7. doi: 10.1136/jmg.32.10.774. J Med Genet. 1995. PMID: 8558553 Free PMC article.

6

Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12.

Brady AF, Jamieson CR, van der Burgt I, Crosby A, van Reen M, Kremer H, Mariman E, Patton MA, Jeffery S. Brady AF, et al. Among authors: jeffery s. Eur J Hum Genet. 1997 Sep-Oct;5(5):336-7. Eur J Hum Genet. 1997. PMID: 9412792 No abstract available.

7

Evidence from a Ghanaian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorder.

Jeffery S, Crosby A, Plange-Rhule J, Amoah-Danquah J, Acheampong JW, Eastwood JB, Malik AK. Jeffery S, et al. Genet Test. 1999;3(4):375-7. doi: 10.1089/gte.1999.3.375. Genet Test. 1999. PMID: 10627947

8

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.

Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S. Afzal AR, et al. Among authors: jeffery s. Hum Genet. 2000 Mar;106(3):351-4. doi: 10.1007/s004390051049. Hum Genet. 2000. PMID: 10798366

9

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Afzal AR, et al. Among authors: jeffery s. Nat Genet. 2000 Aug;25(4):419-22. doi: 10.1038/78107. Nat Genet. 2000. PMID: 10932186

10

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.

Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, Crosby AH. Patel H, et al. Among authors: jeffery s. Am J Hum Genet. 2001 Jul;69(1):209-15. doi: 10.1086/321267. Epub 2001 May 25. Am J Hum Genet. 2001. PMID: 11389484 Free PMC article.

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