Abdulhadi-Atwan M - Search Results

1

Severe Neurodevelopmental Phenotype, Diagnostic and Treatment Challenges in Patients with SECISBP2 Deficiency.

Stoupa A, Franca MM, Abdulhadi-Atwan M, Fujisawa H, Korwutthikulrangsri M, Marchand I, Polak G, Beltrand J, Polak M, Kariyawasam D, Liao XH, Raimondi C, Steigerwald C, Abreu NJ, Bauer AJ, Carré A, Taneja C, Mekhoubad AB, Dumitrescu AM. Stoupa A, et al. Among authors: abdulhadi atwan m. Genet Med. 2024 Sep 21:101280. doi: 10.1016/j.gim.2024.101280. Online ahead of print. Genet Med. 2024. PMID: 39315526 Free article.

2

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.

Abdulhadi-Atwan M, Klopstock T, Sharaf M, Weinberg-Shukron A, Renbaum P, Levy-Lahad E, Zangen D. Abdulhadi-Atwan M, et al. Am J Med Genet A. 2020 May;182(5):1268-1272. doi: 10.1002/ajmg.a.61538. Epub 2020 Mar 5. Am J Med Genet A. 2020. PMID: 32134183

3

Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.

Abdulhadi-Atwan M, Jean A, Chung WK, Meir K, Ben Neriah Z, Stratigopoulos G, Oberfield SE, Fennoy I, Hirsch HJ, Bhangoo A, Ten S, Lerer I, Zangen DH. Abdulhadi-Atwan M, et al. J Clin Endocrinol Metab. 2007 Oct;92(10):4000-8. doi: 10.1210/jc.2007-1306. Epub 2007 Jul 31. J Clin Endocrinol Metab. 2007. PMID: 17666473

4

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E. Zangen D, et al. Among authors: abdulhadi atwan m. Am J Hum Genet. 2011 Oct 7;89(4):572-9. doi: 10.1016/j.ajhg.2011.09.006. Epub 2011 Sep 29. Am J Hum Genet. 2011. PMID: 21963259 Free PMC article.

5

Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.

Cools M, Grijp C, Neirinck J, Tavernier SJ, Schelstraete P, Van De Velde J, Morbée L, De Baere E, Bonroy C, van Bever Y, Bruggenwirth H, Vermont C, Hannema SE, De Rijke Y, Abdulhadi-Atwan M, Zangen D, Verdin H, Haerynck F. Cools M, et al. Among authors: abdulhadi atwan m. Eur J Endocrinol. 2024 Jan 3;190(1):34-43. doi: 10.1093/ejendo/lvad174. Eur J Endocrinol. 2024. PMID: 38128121

6

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.

Breuer O, Abdulhadi-Atwan M, Zeligson S, Fridman H, Renbaum P, Levy-Lahad E, Zangen DH. Breuer O, et al. Among authors: abdulhadi atwan m. Eur J Endocrinol. 2012 Aug;167(2):209-16. doi: 10.1530/EJE-12-0127. Epub 2012 May 22. Eur J Endocrinol. 2012. PMID: 22619348

7

Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy.

Abu Libdeh A, Levy-Khademi F, Abdulhadi-Atwan M, Bosin E, Korner M, White PC, Zangen DH. Abu Libdeh A, et al. Among authors: abdulhadi atwan m. Eur J Endocrinol. 2010 Feb;162(2):221-6. doi: 10.1530/EJE-09-0772. Epub 2009 Nov 6. Eur J Endocrinol. 2010. PMID: 19897608

8

Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence.

Abdulhadi-Atwan M, Bushman J, Tornovsky-Babaey S, Perry A, Abu-Libdeh A, Glaser B, Shyng SL, Zangen DH. Abdulhadi-Atwan M, et al. Diabetes. 2008 Jul;57(7):1935-40. doi: 10.2337/db08-0159. Epub 2008 Apr 4. Diabetes. 2008. PMID: 18390792 Free PMC article.

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