Mutchinick OM - Search Results

1

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.

Mutchinick OM, Shaffer LG, Kashork CD, Cervantes EI. Mutchinick OM, et al. Am J Med Genet. 1999 Jul 16;85(2):99-104. doi: 10.1002/(sici)1096-8628(19990716)85:2<99::aid-ajmg1>3.0.co;2-w. Am J Med Genet. 1999. PMID: 10406660

2

Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations.

Mutchinick O, Ramos Z, Sánchez F, Ruz L, Lisker R, Ovseyevitz J. Mutchinick O, et al. Am J Med Genet. 1988 Jan;29(1):187-92. doi: 10.1002/ajmg.1320290124. Am J Med Genet. 1988. PMID: 3344767

3

Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients.

Méndez JP, Ulloa-Aguirre A, Kofman-Alfaro S, Mutchinick O, Fernández-del-Castillo C, Reyes E, Pérez-Palacios G. Méndez JP, et al. Am J Med Genet. 1993 May 15;46(3):263-7. doi: 10.1002/ajmg.1320460304. Am J Med Genet. 1993. PMID: 8488868

4

Combined trisomy 9 and Ullrich-Turner syndrome in a girl with a 46,X,der(9)t(X;9)(q12;q32) karyotype.

Canún S, Mutchinick O, Shaffer LG, Fernández C. Canún S, et al. Am J Med Genet. 1998 Nov 16;80(3):199-203. Am J Med Genet. 1998. PMID: 9843037

5

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Cardoso C, et al. Among authors: mutchinick om. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5. Am J Hum Genet. 2003. PMID: 12621583 Free PMC article.

6

High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defects.

Mutchinick OM, López MA, Luna L, Waxman J, Babinsky VE. Mutchinick OM, et al. Mol Genet Metab. 1999 Dec;68(4):461-7. doi: 10.1006/mgme.1999.2939. Mol Genet Metab. 1999. PMID: 10607475

7

Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.

Semerci CN, Cinbis M, Ullmann R, Steininger A, Bahce M, Yagci B, Ozden S, Sabir N, Gumus D, Tepeli E, Arteaga J, Mutchinick OM. Semerci CN, et al. Among authors: mutchinick om. Am J Med Genet A. 2010 Jul;152A(7):1724-9. doi: 10.1002/ajmg.a.33383. Am J Med Genet A. 2010. PMID: 20578131

8

Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research.

Mutchinick OM, Luna-Muñoz L, Amar E, Bakker MK, Clementi M, Cocchi G, da Graça Dutra M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry B, Marengo LK, Martínez-Frías ML, Mastroiacovo P, Métneki J, Morgan M, Pierini A, Rissman A, Ritvanen A, Scarano G, Siffel C, Szabova E, Arteaga-Vázquez J. Mutchinick OM, et al. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):274-87. doi: 10.1002/ajmg.c.30321. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002822 Free PMC article. Review.

9

Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Orioli IM, Amar E, Bakker MK, Bermejo-Sánchez E, Bianchi F, Canfield MA, Clementi M, Correa A, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Szabova E, Castilla EE. Orioli IM, et al. Among authors: mutchinick om. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):344-57. doi: 10.1002/ajmg.c.30323. Epub 2011 Oct 17. Am J Med Genet C Semin Med Genet. 2011. PMID: 22006661 Free PMC article. Review.

10

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

Pérez-González EA, Chacón-Camacho OF, Arteaga-Vázquez J, Zenteno JC, Mutchinick OM. Pérez-González EA, et al. Among authors: mutchinick om. Eur J Med Genet. 2013 Nov;56(11):606-8. doi: 10.1016/j.ejmg.2013.08.007. Epub 2013 Sep 25. Eur J Med Genet. 2013. PMID: 24075960

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