Mutchinick OM - Search Results

1

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.

2

Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.

Feldkamp ML, Canfield MA, Krikov S, Prieto-Merino D, Šípek A Jr, LeLong N, Amar E, Rissmann A, Csaky-Szunyogh M, Tagliabue G, Pierini A, Gatt M, Bergman JEH, Szabova E, Bermejo-Sánchez E, Tucker D, Dastgiri S, Bidondo MP, Canessa A, Zarante I, Hurtado-Villa P, Martinez L, Mutchinick OM, Camelo JL, Benavides-Lara A, Thomas MA, Liu S, Nembhard WN, Gray EB, Nance AE, Mastroiacovo P, Botto LD. Feldkamp ML, et al. Among authors: mutchinick om. Birth Defects Res. 2024 Feb;116(2):e2306. doi: 10.1002/bdr2.2306. Birth Defects Res. 2024. PMID: 38411327 Free PMC article.

3

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

4

Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?

Kroes HY, Olney RS, Rosano A, Liu Y, Castilla EE, Cocchi G, De Vigan C, Martínez-Frías ML, Mastroiacovo P, Merlob P, Mutchinick O, Ritvanen A, Stoll C, van Essen AJ, Cobben JM, Cornel MC. Kroes HY, et al. Am J Med Genet A. 2004 Aug 30;129A(2):149-55. doi: 10.1002/ajmg.a.30176. Am J Med Genet A. 2004. PMID: 15316969

5

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

6

Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63.

Zenteno JC, Berdón-Zapata V, Kofman-Alfaro S, Mutchinick OM. Zenteno JC, et al. Among authors: mutchinick om. Am J Med Genet A. 2005 Apr 1;134A(1):74-6. doi: 10.1002/ajmg.a.30277. Am J Med Genet A. 2005. PMID: 15736220

7

Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22)(q22;q11).

Mutchinick O, Ruz L, Jiménez R. Mutchinick O, et al. Hum Genet. 1978 Nov 24;45(1):89-95. doi: 10.1007/BF00277579. Hum Genet. 1978. PMID: 730186

8

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

9

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

10

Association of vitamin D receptor polymorphisms with osteoporosis in mexican postmenopausal women.

Lisker R, López MA, Jasqui S, Ponce De León Rosales S, Correa-Rotter R, Sánchez S, Mutchinick OM. Lisker R, et al. Among authors: mutchinick om. Hum Biol. 2003 Jun;75(3):399-403. doi: 10.1353/hub.2003.0045. Hum Biol. 2003. PMID: 14527203

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