Pober B - Search Results

1

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.

Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC. Osborne LR, et al. Among authors: pober b. Genomics. 1996 Sep 1;36(2):328-36. doi: 10.1006/geno.1996.0469. Genomics. 1996. PMID: 8812460 Free article.

2

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.

Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: pober br. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.

3

Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.

Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer SW, Tsui LC. Osborne LR, et al. Among authors: pober b. Am J Hum Genet. 1997 Aug;61(2):449-52. doi: 10.1086/514850. Am J Hum Genet. 1997. PMID: 9311751 Free PMC article. No abstract available.

4

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A. Piccini M, et al. Among authors: pober br. Genomics. 1998 Feb 1;47(3):350-8. doi: 10.1006/geno.1997.5104. Genomics. 1998. PMID: 9480748 Free article.

5

Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).

Vitelli F, Piccini M, Caroli F, Franco B, Malandrini A, Pober B, Jonsson J, Sorrentino V, Renieri A. Vitelli F, et al. Among authors: pober b. Genomics. 1999 Feb 1;55(3):335-40. doi: 10.1006/geno.1998.5666. Genomics. 1999. PMID: 10049589

6

KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.

Piccini M, Vitelli F, Seri M, Galietta LJ, Moran O, Bulfone A, Banfi S, Pober B, Renieri A. Piccini M, et al. Among authors: pober b. Genomics. 1999 Sep 15;60(3):251-7. doi: 10.1006/geno.1999.5904. Genomics. 1999. PMID: 10493825

7

Genetics of childhood disorders: XXVII. Genes and cognition in Williams syndrome.

Osborne L, Pober B. Osborne L, et al. Among authors: pober b. J Am Acad Child Adolesc Psychiatry. 2001 Jun;40(6):732-5. doi: 10.1097/00004583-200106000-00021. J Am Acad Child Adolesc Psychiatry. 2001. PMID: 11392353 No abstract available.

8

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. Osborne LR, et al. Among authors: pober b. Nat Genet. 2001 Nov;29(3):321-5. doi: 10.1038/ng753. Nat Genet. 2001. PMID: 11685205 Free PMC article.

9

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Scherer SW, et al. Among authors: pober b. Science. 2003 May 2;300(5620):767-72. doi: 10.1126/science.1083423. Epub 2003 Apr 10. Science. 2003. PMID: 12690205 Free PMC article.

10

High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Pober BR, Wang E, Caprio S, Petersen KF, Brandt C, Stanley T, Osborne LR, Dzuria J, Gulanski B. Pober BR, et al. Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):291-8. doi: 10.1002/ajmg.c.30261. Am J Med Genet C Semin Med Genet. 2010. PMID: 20425788 Free PMC article.

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