Matalon R - Search Results

1

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U. Byers PH, et al. Among authors: matalon r. Am J Med Genet. 1997 Oct 3;72(1):94-105. doi: 10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9295084

2

Canavan disease: mutations among Jewish and non-Jewish patients.

Kaul R, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R. Kaul R, et al. Among authors: matalon r. Am J Hum Genet. 1994 Jul;55(1):34-41. Am J Hum Genet. 1994. PMID: 8023850 Free PMC article.

3

First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies.

Northup JK, Wain KE, Hawkins JC, Matalon R, Velagaleti GV. Northup JK, et al. Among authors: matalon r. Am J Med Genet A. 2008 Oct 1;146A(19):2578-82. doi: 10.1002/ajmg.a.32486. Am J Med Genet A. 2008. PMID: 18792973 No abstract available.

4

Novel missense mutation (Y231C) in a turkish patient with canavan disease.

Rady PL, Vargas T, Tyring SK, Matalon R, Langenbeck U. Rady PL, et al. Among authors: matalon r. Am J Med Genet. 1999 Nov 26;87(3):273-5. doi: 10.1002/(sici)1096-8628(19991126)87:3<273::aid-ajmg17>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10564886 No abstract available.

5

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

Guldberg P, Levy HL, Hanley WB, Koch R, Matalon R, Rouse BM, Trefz F, de la Cruz F, Henriksen KF, Güttler F. Guldberg P, et al. Among authors: matalon r. Am J Hum Genet. 1996 Jul;59(1):84-94. Am J Hum Genet. 1996. PMID: 8659548 Free PMC article.

6

Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.

Jaquez M, Driscoll DA, Li M, Emanuel BS, Hernandez I, Jaquez F, Lembert N, Ramirez J, Matalon R. Jaquez M, et al. Among authors: matalon r. Am J Med Genet. 1997 May 2;70(1):6-10. doi: 10.1002/(sici)1096-8628(19970502)70:1<6::aid-ajmg2>3.0.co;2-z. Am J Med Genet. 1997. PMID: 9129733

7

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

Kaul R, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT. Kaul R, et al. Among authors: matalon r. Am J Hum Genet. 1996 Jul;59(1):95-102. Am J Hum Genet. 1996. PMID: 8659549 Free PMC article.

8

Dominant inheritance of a syndrome similar to Rubinstein-Taybi.

Cotsirilos P, Taylor JC, Matalon R. Cotsirilos P, et al. Among authors: matalon r. Am J Med Genet. 1987 Jan;26(1):85-93. doi: 10.1002/ajmg.1320260115. Am J Med Genet. 1987. PMID: 3812583

9

Fragile X syndrome in two siblings with major congenital malformations.

Giampietro PF, Haas BR, Lipper E, Gutman A, Zellers NJ, LaTrenta GS, Brooks SS, Matalon R, Kaul R, Ding XH, Brown WT. Giampietro PF, et al. Among authors: matalon r. Am J Med Genet. 1996 May 17;63(2):396-400. doi: 10.1002/(SICI)1096-8628(19960517)63:2<396::AID-AJMG14>3.0.CO;2-F. Am J Med Genet. 1996. PMID: 8725793

10

Methylenetetrahydrofolate reductase (MTHFR): the incidence of mutations C677T and A1298C in the Ashkenazi Jewish population.

Rady PL, Tyring SK, Hudnall SD, Vargas T, Kellner LH, Nitowsky H, Matalon RK. Rady PL, et al. Among authors: matalon rk. Am J Med Genet. 1999 Oct 8;86(4):380-4. doi: 10.1002/(sici)1096-8628(19991008)86:4<380::aid-ajmg13>3.0.co;2-9. Am J Med Genet. 1999. PMID: 10494095

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