Meyer B - Search Results

1

A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.

Al-Owain M, Al-Zahrani J, Al-Bakheet A, Abudheim N, Al-Younes B, Aldhalaan H, Al-Zaidan H, Colak D, Almohaileb F, Abouzied ME, Al-Fadhli F, Meyer B, Kaya N. Al-Owain M, et al. Among authors: meyer b. Clin Genet. 2013 Sep;84(3):258-64. doi: 10.1111/cge.12066. Epub 2012 Dec 21. Clin Genet. 2013. PMID: 23181898

2

Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.

Kambouris M, Bohlega S, Al-Tahan A, Meyer BF. Kambouris M, et al. Among authors: meyer bf. Am J Hum Genet. 2000 Feb;66(2):445-52. doi: 10.1086/302744. Am J Hum Genet. 2000. PMID: 10677304 Free PMC article.

3

Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature.

Khan AO, Alam SK, Aldahmesh M, Rajab M, Meyer B. Khan AO, et al. Among authors: meyer b. Ophthalmic Genet. 2006 Sep;27(3):79-82. doi: 10.1080/13816810600862501. Ophthalmic Genet. 2006. PMID: 17050282

4

Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).

Khan AO, Aldahmesh MA, Meyer B. Khan AO, et al. Among authors: meyer b. Am J Ophthalmol. 2007 Dec;144(6):949-952. doi: 10.1016/j.ajo.2007.08.005. Epub 2007 Oct 15. Am J Ophthalmol. 2007. PMID: 17937925

5

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M. Alsmadi O, et al. Eur J Hum Genet. 2009 Jan;17(1):14-21. doi: 10.1038/ejhg.2008.141. Epub 2008 Aug 13. Eur J Hum Genet. 2009. PMID: 18701883 Free PMC article.

6

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.

Kaya N, Al-Owain M, Albakheet A, Colak D, Al-Odaib A, Imtiaz F, Coskun S, Al-Sayed M, Al-Hassnan Z, Al-Zaidan H, Meyer B, Ozand P. Kaya N, et al. Among authors: meyer b. Eur J Med Genet. 2008 Nov-Dec;51(6):558-65. doi: 10.1016/j.ejmg.2008.08.001. Epub 2008 Aug 26. Eur J Med Genet. 2008. PMID: 18790721

7

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

Kaya N, Imtiaz F, Colak D, Al-Sayed M, Al-Odaib A, Al-Zahrani F, Al-Mubarak BR, Al-Owain M, Al-Dhalaan H, Chedrawi A, Al-Hassnan Z, Coskun S, Sakati N, Ozand P, Meyer BF. Kaya N, et al. Genet Med. 2008 Sep;10(9):675-84. doi: 10.1097/gim.0b013e31818337a8. Genet Med. 2008. PMID: 18978679 Free article.

8

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Among authors: meyer b. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.

9

Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

Al-Dirbashi OY, Shaheen R, Al-Sayed M, Al-Dosari M, Makhseed N, Abu Safieh L, Santa T, Meyer BF, Shimozawa N, Alkuraya FS. Al-Dirbashi OY, et al. Among authors: meyer bf. Am J Med Genet A. 2009 Jun;149A(6):1219-23. doi: 10.1002/ajmg.a.32874. Am J Med Genet A. 2009. PMID: 19449432

10

Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease.

Alsmadi O, Muiya P, Khalak H, Al-Saud H, Meyer BF, Al-Mohanna F, Alshahid M, Dzimiri N. Alsmadi O, et al. Ann Hum Genet. 2009 Sep;73(Pt 5):475-83. doi: 10.1111/j.1469-1809.2009.00534.x. Epub 2009 Jun 16. Ann Hum Genet. 2009. PMID: 19624571

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