Meyer BF - Search Results

1

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS. Maddirevula S, et al. Among authors: meyer bf. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21. Genet Med. 2019. PMID: 30237576 Free PMC article.

2

Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.

Alsmadi OA, Al-Kayal F, Al-Hamed M, Meyer BF. Alsmadi OA, et al. Among authors: meyer bf. BMC Med Genet. 2006 May 3;7:43. doi: 10.1186/1471-2350-7-43. BMC Med Genet. 2006. PMID: 16672055 Free PMC article.

3

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

Carroll P, Al-Mojalli H, Al-Abbad A, Al-Hassoun I, Al-Hamed M, Al-Amr R, Butt AI, Meyer BF. Carroll P, et al. Among authors: meyer bf. Genet Med. 2006 Jul;8(7):443-7. doi: 10.1097/01.gim.0000223554.46981.7a. Genet Med. 2006. PMID: 16845277 Free article.

4

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. Among authors: meyer bf. 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.

5

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. 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

6

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. Among authors: meyer bf. Genet Med. 2008 Sep;10(9):675-84. doi: 10.1097/gim.0b013e31818337a8. Genet Med. 2008. PMID: 18978679 Free article.

7

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. 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.

8

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.

Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: meyer bf. Am J Med Genet A. 2009 Feb 15;149A(4):662-5. doi: 10.1002/ajmg.a.32753. Am J Med Genet A. 2009. PMID: 19283855

9

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature.

Alsmadi O, Alkayal F, Monies D, Meyer BF. Alsmadi O, et al. Among authors: meyer bf. BMC Res Notes. 2009 Mar 24;2:48. doi: 10.1186/1756-0500-2-48. BMC Res Notes. 2009. PMID: 19309528 Free PMC article.

10

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.

Aldahmesh MA, Khan AO, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: meyer bf. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4142-5. doi: 10.1167/iovs.08-3006. Epub 2009 Apr 15. Invest Ophthalmol Vis Sci. 2009. PMID: 19369245

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