Pober BR - Search Results

1

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.

2

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. Genomics. 1999 Sep 15;60(3):251-7. doi: 10.1006/geno.1999.5904. Genomics. 1999. PMID: 10493825

3

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. Genomics. 1999 Feb 1;55(3):335-40. doi: 10.1006/geno.1998.5666. Genomics. 1999. PMID: 10049589

4

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR. Jonsson JJ, et al. Among authors: pober br. J Med Genet. 1998 Apr;35(4):273-8. doi: 10.1136/jmg.35.4.273. J Med Genet. 1998. PMID: 9598718 Free PMC article.

5

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

Meloni I, Vitelli F, Pucci L, Lowry RB, Tonlorenzi R, Rossi E, Ventura M, Rizzoni G, Kashtan CE, Pober B, Renieri A. Meloni I, et al. J Med Genet. 2002 May;39(5):359-65. doi: 10.1136/jmg.39.5.359. J Med Genet. 2002. PMID: 12011158 Free PMC article. No abstract available.

6

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. Genomics. 1996 Sep 1;36(2):328-36. doi: 10.1006/geno.1996.0469. Genomics. 1996. PMID: 8812460 Free article.

7

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Prattichizzo C, et al. Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. Hum Mutat. 2008. PMID: 18546297

8

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.

Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR. Hisama FM, et al. Among authors: pober br. Am J Med Genet. 2001 Jan 15;98(2):121-4. doi: 10.1002/1096-8628(20010115)98:2<121::aid-ajmg1019>3.0.co;2-4. Am J Med Genet. 2001. PMID: 11223846

9

Multisystem study of 20 older adults with Williams syndrome.

Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR. Cherniske EM, et al. Among authors: pober br. Am J Med Genet A. 2004 Dec 15;131(3):255-64. doi: 10.1002/ajmg.a.30400. Am J Med Genet A. 2004. PMID: 15534874

10

Early puberty in Williams syndrome.

Cherniske EM, Sadler LS, Schwartz D, Carpenter TO, Pober BR. Cherniske EM, et al. Among authors: pober br. Clin Dysmorphol. 1999 Apr;8(2):117-21. Clin Dysmorphol. 1999. PMID: 10319200

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