May KM - Search Results

1

Population-based analyses of mortality in trisomy 13 and trisomy 18.

Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Rasmussen SA, et al. Among authors: may km. Pediatrics. 2003 Apr;111(4 Pt 1):777-84. doi: 10.1542/peds.111.4.777. Pediatrics. 2003. PMID: 12671111

2

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM. Botto LD, et al. Pediatrics. 2003 Jul;112(1 Pt 1):101-7. doi: 10.1542/peds.112.1.101. Pediatrics. 2003. PMID: 12837874

3

Mosaic trisomy 4: Long-term outcome on the first reported liveborn.

Brady AN, May KM, Fernhoff PM. Brady AN, et al. Among authors: may km. Am J Med Genet A. 2005 Feb 1;132A(4):411-3. doi: 10.1002/ajmg.a.30339. Am J Med Genet A. 2005. PMID: 15633177

4

Campomelic syndrome and deletion of SOX9.

Olney PN, Kean LS, Graham D, Elsas LJ, May KM. Olney PN, et al. Among authors: may km. Am J Med Genet. 1999 May 7;84(1):20-4. Am J Med Genet. 1999. PMID: 10213041

5

Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II.

Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, Mikkelsen M, Hassold TJ, Sherman SL. Lamb NE, et al. Among authors: may km. Nat Genet. 1996 Dec;14(4):400-5. doi: 10.1038/ng1296-400. Nat Genet. 1996. PMID: 8944019

6

Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.

Freeman SB, May KM, Pettay D, Fernhoff PM, Hassold TJ. Freeman SB, et al. Among authors: may km. Am J Med Genet. 1993 Mar 1;45(5):625-30. doi: 10.1002/ajmg.1320450522. Am J Med Genet. 1993. PMID: 8456836

7

Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)].

Freeman SB, Muralidharan K, Pettay D, Blackston RD, May KM. Freeman SB, et al. Among authors: may km. Am J Med Genet. 1996 Feb 2;61(4):340-4. doi: 10.1002/(SICI)1096-8628(19960202)61:4<340::AID-AJMG7>3.0.CO;2-Y. Am J Med Genet. 1996. PMID: 8834045

8

Sex ratios in fetuses and liveborn infants with autosomal aneuploidy.

Huether CA, Martin RL, Stoppelman SM, D'Souza S, Bishop JK, Torfs CP, Lorey F, May KM, Hanna JS, Baird PA, Kelly JC. Huether CA, et al. Among authors: may km. Am J Med Genet. 1996 Jun 14;63(3):492-500. doi: 10.1002/(SICI)1096-8628(19960614)63:3<492::AID-AJMG15>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8737659

9

The parental origin of the extra X chromosome in 47,XXX females.

May KM, Jacobs PA, Lee M, Ratcliffe S, Robinson A, Nielsen J, Hassold TJ. May KM, et al. Am J Hum Genet. 1990 Apr;46(4):754-61. Am J Hum Genet. 1990. PMID: 2316522 Free PMC article.

10

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.

Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL. Hauge X, et al. Genet Med. 2008 Aug;10(8):599-611. doi: 10.1097/gim.0b013e31817e2bde. Genet Med. 2008. PMID: 18641517 Free PMC article.

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