Borck G - Search Results

1

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L. Borck G, et al. Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11. Mol Cell. 2012. PMID: 23063529 Free PMC article.

2

[Diagnostic approach in patients with severe and syndromic mental retardation].

Rio M, Colleaux L, Sanlaville D, Borck G, Molinari F, Munnich A. Rio M, et al. Among authors: borck g. Arch Pediatr. 2004 Jun;11(6):566-8. doi: 10.1016/j.arcped.2004.03.061. Arch Pediatr. 2004. PMID: 15158836 French. No abstract available.

3

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.

Borck G, Zarhrate M, Cluzeau C, Bal E, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. Borck G, et al. Hum Mutat. 2006 Aug;27(8):731-5. doi: 10.1002/humu.20380. Hum Mutat. 2006. PMID: 16799922

4

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. Borck G, et al. Hum Mutat. 2007 Feb;28(2):205-6. doi: 10.1002/humu.9478. Hum Mutat. 2007. PMID: 17221863

5

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.

Borck G, Mollà-Herman A, Boddaert N, Encha-Razavi F, Philippe A, Robel L, Desguerre I, Brunelle F, Benmerah A, Munnich A, Colleaux L. Borck G, et al. Hum Mutat. 2008 Jul;29(7):966-74. doi: 10.1002/humu.20531. Hum Mutat. 2008. PMID: 18428203

6

Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.

Borck G, Seewi O, Jung A, Schönau E, Kubisch C. Borck G, et al. J Clin Endocrinol Metab. 2009 Jun;94(6):2106-9. doi: 10.1210/jc.2008-2361. Epub 2009 Mar 24. J Clin Endocrinol Metab. 2009. PMID: 19318451

7

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, Chaouch M. Saadi A, et al. Among authors: borck g. Eur J Med Genet. 2009 Jul-Aug;52(4):180-4. doi: 10.1016/j.ejmg.2009.03.013. Epub 2009 Mar 28. Eur J Med Genet. 2009. PMID: 19332161

8

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C. Borck G, et al. Am J Med Genet A. 2010 Aug;152A(8):2090-3. doi: 10.1002/ajmg.a.33541. Am J Med Genet A. 2010. PMID: 20635400

9

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C. Borck G, et al. Hum Genet. 2011 Jan;129(1):45-50. doi: 10.1007/s00439-010-0896-2. Epub 2010 Oct 22. Hum Genet. 2011. PMID: 20967465

10

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.

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