El Shanti H - Search Results

1

Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.

Ajlouni K, Jarrah N, El-Khateeb M, El-Zaheri M, El Shanti H, Lidral A. Ajlouni K, et al. Among authors: el shanti h, el khateeb m, el zaheri m. Am J Med Genet. 2002 May 30;115(1):61-5. doi: 10.1002/ajmg.10345. Am J Med Genet. 2002. PMID: 12116178

2

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.

El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. El-Shanti H, et al. Am J Hum Genet. 2000 Apr;66(4):1229-36. doi: 10.1086/302858. Epub 2000 Mar 14. Am J Hum Genet. 2000. PMID: 10739754 Free PMC article.

3

Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome.

El-Shanti H, Ahmad M, Ajlouni K. El-Shanti H, et al. Eur J Pediatr. 2003 Jan;162(1):36-40. doi: 10.1007/s00431-002-1108-4. Epub 2002 Nov 28. Eur J Pediatr. 2003. PMID: 12486505

4

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R. Amr S, et al. Among authors: el shanti h. Am J Hum Genet. 2007 Oct;81(4):673-83. doi: 10.1086/520961. Epub 2007 Aug 20. Am J Hum Genet. 2007. PMID: 17846994 Free PMC article.

5

Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation.

al-Sheyyab M, Jarrah N, Younis E, Shennak MM, Hadidi A, Awidi A, el-Shanti H, Ajlouni K. al-Sheyyab M, et al. Among authors: el shanti h. Eur J Pediatr. 2001 Apr;160(4):243-6. doi: 10.1007/s004310000704. Eur J Pediatr. 2001. PMID: 11317648

6

A case of Wolfram syndrome in triplets: Some newly recognized features.

Jarrah NS, El-Shanti H, Shennak MM, Ajlouni KM. Jarrah NS, et al. Among authors: el shanti h. Ann Saudi Med. 1999 Mar-Apr;19(2):132-4. doi: 10.5144/0256-4947.1999.132. Ann Saudi Med. 1999. PMID: 17337952 Free article. No abstract available.

7

A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant.

Garg A, El-Shanti H, Xing C, Zhou Z, Abujbara M, Al-Rashed K, El-Khateeb M, Ajlouni K, Agarwal AK. Garg A, et al. Among authors: el shanti h. J Endocr Soc. 2020 Jul 8;4(8):bvaa088. doi: 10.1210/jendso/bvaa088. eCollection 2020 Aug 1. J Endocr Soc. 2020. PMID: 32803092 Free PMC article.

8

Effects of short term metformin administration on androgens in diabetic men.

Shegem NS, Alsheek Nasir AM, Batieha AM, El-Shanti H, Ajlouni KM. Shegem NS, et al. Among authors: el shanti h. Saudi Med J. 2004 Jan;25(1):75-8. Saudi Med J. 2004. PMID: 14758385

9

Familial disorder of sex determination in seven individuals from three related sibships.

Jarrah N, El-Shanti H, Khier A, Obeidat FN, Haddidi A, Ajlouni K. Jarrah N, et al. Among authors: el shanti h. Eur J Pediatr. 2000 Dec;159(12):912-8. doi: 10.1007/pl00008369. Eur J Pediatr. 2000. PMID: 11131351

10

The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.

Majeed HA, El-Khateeb M, El-Shanti H, Rabaiha ZA, Tayeh M, Najib D. Majeed HA, et al. Among authors: el shanti h, el khateeb m. Semin Arthritis Rheum. 2005 Jun;34(6):813-8. doi: 10.1016/j.semarthrit.2005.01.010. Semin Arthritis Rheum. 2005. PMID: 15942916

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