Karbani G - Search Results

1

Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.

Brown KA, Janjua AH, Karbani G, Parry G, Noble A, Crockford G, Bishop DT, Newton VE, Markham AF, Mueller RF. Brown KA, et al. Among authors: karbani g. Hum Mol Genet. 1996 Jan;5(1):169-73. doi: 10.1093/hmg/5.1.169. Hum Mol Genet. 1996. PMID: 8789457

2

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF. Campbell DA, et al. Among authors: karbani g. J Med Genet. 1997 Dec;34(12):1015-7. doi: 10.1136/jmg.34.12.1015. J Med Genet. 1997. PMID: 9429146 Free PMC article.

3

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG. Jackson AP, et al. Among authors: karbani g. Am J Hum Genet. 1998 Aug;63(2):541-6. doi: 10.1086/301966. Am J Hum Genet. 1998. PMID: 9683597 Free PMC article.

4

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG. Moynihan L, et al. Among authors: karbani g. Am J Hum Genet. 2000 Feb;66(2):724-7. doi: 10.1086/302777. Am J Hum Genet. 2000. PMID: 10677332 Free PMC article.

5

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. Jackson AP, et al. Among authors: karbani g. Am J Hum Genet. 2002 Jul;71(1):136-42. doi: 10.1086/341283. Epub 2002 Jun 3. Am J Hum Genet. 2002. PMID: 12046007 Free PMC article.

6

Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.

Kumar D, Duggan MB, Mueller RF, Karbani G. Kumar D, et al. Among authors: karbani g. Am J Med Genet. 1997 May 16;70(2):107-13. Am J Med Genet. 1997. PMID: 9128926

7

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Crow YJ, et al. Among authors: karbani g. Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827106 Free PMC article.

8

Familial microcephaly with normal intelligence in a patient with acute lymphoblastic leukemia.

Heney D, Mueller R, Turner G, Karbani G, Cadranel J, Lewis IJ, Bailey CC. Heney D, et al. Among authors: karbani g. Cancer. 1992 Feb 15;69(4):962-5. doi: 10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w. Cancer. 1992. PMID: 1735087 Review.

9

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF. Woods CG, et al. Among authors: karbani g. Am J Hum Genet. 2006 May;78(5):889-896. doi: 10.1086/503875. Epub 2006 Mar 21. Am J Hum Genet. 2006. PMID: 16642444 Free PMC article.

10

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Shaw NJ, Haigh D, Lealmann GT, Karbani G, Brocklebank JT, Dillon MJ. Shaw NJ, et al. Among authors: karbani g. Arch Dis Child. 1991 Oct;66(10):1191-4. doi: 10.1136/adc.66.10.1191. Arch Dis Child. 1991. PMID: 1719942 Free PMC article.

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