Meyer B - Search Results

1

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.

2

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kambouris M. Diaz GA, et al. Among authors: meyer bf. Am J Med Genet. 1999 Jul 2;85(1):48-52. doi: 10.1002/(sici)1096-8628(19990702)85:1<48::aid-ajmg9>3.0.co;2-y. Am J Med Genet. 1999. PMID: 10377012

3

Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.

Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M. Al-Jishi E, et al. Among authors: meyer bf. Clin Genet. 1999 Jun;55(6):444-9. doi: 10.1034/j.1399-0004.1999.550608.x. Clin Genet. 1999. PMID: 10450861

4

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.

5

RAGE-mediated neutrophil dysfunction is evoked by advanced glycation end products (AGEs).

Collison KS, Parhar RS, Saleh SS, Meyer BF, Kwaasi AA, Hammami MM, Schmidt AM, Stern DM, Al-Mohanna FA. Collison KS, et al. J Leukoc Biol. 2002 Mar;71(3):433-44. J Leukoc Biol. 2002. PMID: 11867681

6

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14.

Hodgkinson CA, Bohlega S, Abu-Amero SN, Cupler E, Kambouris M, Meyer BF, Bharucha VA. Hodgkinson CA, et al. Among authors: meyer bf. Neurology. 2002 Dec 24;59(12):1905-9. doi: 10.1212/01.wnl.0000036909.49629.21. Neurology. 2002. PMID: 12499481

7

Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.

Bohlega S, Lach B, Meyer BF, Al Said Y, Kambouris M, Al Homsi M, Cupler EJ. Bohlega S, et al. Among authors: meyer bf. Neurology. 2003 Dec 9;61(11):1519-23. doi: 10.1212/01.wnl.0000096022.09887.9d. Neurology. 2003. PMID: 14663035

8

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF. Bohlega S, et al. Among authors: meyer bf. Neurology. 2004 May 11;62(9):1518-21. doi: 10.1212/01.wnl.0000123255.92062.37. Neurology. 2004. PMID: 15136674

9

Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.

Khan AO, Aldahmesh M, Al-Saif A, Meyer B. Khan AO, et al. Among authors: meyer b. Br J Ophthalmol. 2005 Nov;89(11):1538-40. doi: 10.1136/bjo.2005.073510. Br J Ophthalmol. 2005. PMID: 16234475 Free PMC article. No abstract available.

10

Novel PRG4 mutations underlie CACP in Saudi families.

Alazami AM, Al-Mayouf SM, Wyngaard CA, Meyer B. Alazami AM, et al. Among authors: meyer b. Hum Mutat. 2006 Feb;27(2):213. doi: 10.1002/humu.9399. Hum Mutat. 2006. PMID: 16429407

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