Shaheen R - Search Results

1

Warsaw breakage syndrome: Further clinical and genetic delineation.

Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D. Alkhunaizi E, et al. Among authors: shaheen r. Am J Med Genet A. 2018 Nov;176(11):2404-2418. doi: 10.1002/ajmg.a.40482. Epub 2018 Sep 14. Am J Med Genet A. 2018. PMID: 30216658 Free PMC article.

2

ADAT3-related intellectual disability: Further delineation of the phenotype.

El-Hattab AW, Saleh MA, Hashem A, Al-Owain M, Asmari AA, Rabei H, Abdelraouf H, Hashem M, Alazami AM, Patel N, Shaheen R, Faqeih EA, Alkuraya FS. El-Hattab AW, et al. Among authors: shaheen r. Am J Med Genet A. 2016 May;170A(5):1142-7. doi: 10.1002/ajmg.a.37578. Epub 2016 Feb 3. Am J Med Genet A. 2016. PMID: 26842963

3

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients.

Shaheen R, Al-Salam Z, El-Hattab AW, Alkuraya FS. Shaheen R, et al. Am J Med Genet A. 2016 Dec;170(12):3222-3226. doi: 10.1002/ajmg.a.37877. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27480277 Review.

4

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).

Al-Qattan MM, Shaheen R, Alkuraya FS. Al-Qattan MM, et al. Among authors: shaheen r. Am J Med Genet A. 2017 Sep;173(9):2439-2441. doi: 10.1002/ajmg.a.38336. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631893

5

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.

Abdel-Salam GMH, Mazen I, Eid M, Ewida N, Shaheen R, Alkuraya FS. Abdel-Salam GMH, et al. Among authors: shaheen r. Am J Med Genet A. 2019 Jun;179(6):1053-1057. doi: 10.1002/ajmg.a.61133. Epub 2019 Mar 26. Am J Med Genet A. 2019. PMID: 30912300

6

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS. Abu Safieh L, et al. Among authors: shaheen r. J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858128

7

Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.

Shaheen R, Al-Owain M, Khan AO, Zaki MS, Hossni HA, Al-Tassan R, Eyaid W, Alkuraya FS. Shaheen R, et al. Clin Genet. 2014 Jun;85(6):568-72. doi: 10.1111/cge.12226. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829171

8

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N, Khan AO, Alsahli S, Abdel-Salam G, Nowilaty SR, Mansour AM, Nabil A, Al-Owain M, Sogati S, Salih MA, Kamal AM, Alsharif H, Alsaif HS, Alzahrani SS, Abdulwahab F, Ibrahim N, Hashem M, Faquih T, Shah ZA, Abouelhoda M, Monies D, Dasouki M, Shaheen R, Wakil SM, Aldahmesh MA, Alkuraya FS. Patel N, et al. Among authors: shaheen r. Clin Genet. 2018 Jun;93(6):1210-1222. doi: 10.1111/cge.13239. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29450879

9

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: shaheen r. 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

10

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS. Alazami AM, et al. Among authors: shaheen r. Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010. Am J Hum Genet. 2009. PMID: 19732862 Free PMC article.

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