Zangen D - Search Results

1

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. Among authors: zangen d. 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

2

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

3

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.

4

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A. Bargal R, et al. Am J Hum Genet. 2009 Jan;84(1):80-4. doi: 10.1016/j.ajhg.2008.12.004. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110212 Free PMC article.

5

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. 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

6

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. 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.

7

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. 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

8

Testicular differentiation factor SF-1 is required for human spleen development.

Zangen D, Kaufman Y, Banne E, Weinberg-Shukron A, Abulibdeh A, Garfinkel BP, Dweik D, Kanaan M, Camats N, Flück C, Renbaum P, Levy-Lahad E. Zangen D, et al. J Clin Invest. 2014 May;124(5):2071-5. doi: 10.1172/JCI73186. Epub 2014 Apr 8. J Clin Invest. 2014. PMID: 24905461 Free PMC article.

9

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.

Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, Dahary D, Abu-Rayyan A, Kanaan M, Levy-Lahad E, Bercovich D, Zangen D. Tenenbaum-Rakover Y, et al. Among authors: zangen d. J Med Genet. 2015 Jun;52(6):391-9. doi: 10.1136/jmedgenet-2014-102921. Epub 2015 Apr 14. J Med Genet. 2015. PMID: 25873734

10

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.

Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D. Weinberg-Shukron A, et al. Among authors: zangen d. J Med Genet. 2015 Sep;52(9):636-41. doi: 10.1136/jmedgenet-2015-103078. Epub 2015 Jun 12. J Med Genet. 2015. PMID: 26070314

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