Fernhoff PM - Search Results

1

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: fernhoff pm. Am J Med Genet. 1993 Mar 1;45(5):625-30. doi: 10.1002/ajmg.1320450522. Am J Med Genet. 1993. PMID: 8456836

2

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

Brady AN, May KM, Fernhoff PM. Brady AN, et al. Among authors: fernhoff pm. 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

3

Prenatal ascertainment of triploidy by maternal serum alpha-fetoprotein screening.

Freeman SB, Priest JH, MacMahon WC, Fernhoff PM, Elsas LJ. Freeman SB, et al. Among authors: fernhoff pm. Prenat Diagn. 1989 May;9(5):339-47. doi: 10.1002/pd.1970090507. Prenat Diagn. 1989. PMID: 2471183

4

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. Among authors: fernhoff pm. Pediatrics. 2003 Jul;112(1 Pt 1):101-7. doi: 10.1542/peds.112.1.101. Pediatrics. 2003. PMID: 12837874

5

Pre- and postnatal diagnosis of trisomy 4 mosaicism.

Marion JP, Fernhoff PM, Korotkin J, Priest JH. Marion JP, et al. Among authors: fernhoff pm. Am J Med Genet. 1990 Nov;37(3):362-5. doi: 10.1002/ajmg.1320370314. Am J Med Genet. 1990. PMID: 2260566

6

Unique mosaicism of tetraploidy and trisomy 8: clinical, cytogenetic, and molecular findings in a live-born infant.

Roberts HE, Saxe DF, Muralidharan K, Coleman KB, Zacharias JF, Fernhoff PM. Roberts HE, et al. Among authors: fernhoff pm. Am J Med Genet. 1996 Mar 29;62(3):243-6. doi: 10.1002/(SICI)1096-8628(19960329)62:3<243::AID-AJMG8>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8882781

7

Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992.

Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. Roberts HE, et al. Among authors: fernhoff pm. Am J Med Genet. 1997 Jul 11;71(1):29-32. doi: 10.1002/(sici)1096-8628(19970711)71:1<29::aid-ajmg5>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9215764

8

Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review.

Wang SS, Fernhoff PM, Hannon WH, Khoury MJ. Wang SS, et al. Among authors: fernhoff pm. Genet Med. 1999 Nov-Dec;1(7):332-9. doi: 10.1097/00125817-199911000-00004. Genet Med. 1999. PMID: 11263545 Free article.

9

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, Fernhoff PM, Ledbetter DH, Martin CL. Moreno-De-Luca A, et al. Among authors: fernhoff pm. J Med Genet. 2011 Feb;48(2):141-4. doi: 10.1136/jmg.2010.082263. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972249 Free PMC article.

10

Mowat-Wilson syndrome with craniosynostosis: a case report.

Adam MP, Justice AN, Bean LJ, Fernhoff PM. Adam MP, et al. Among authors: fernhoff pm. Am J Med Genet A. 2008 Jan 15;146A(2):245-6. doi: 10.1002/ajmg.a.32075. Am J Med Genet A. 2008. PMID: 18076118 No abstract available.

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