Koiffmann C - Search Results

1

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R; Baylor-Hopkins Center for Mendelian Genomics; White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann C, Rosenberg C, Carvalho CMB. Jehee FS, et al. Among authors: koiffmann c. Am J Med Genet A. 2017 Sep;173(9):2451-2455. doi: 10.1002/ajmg.a.38315. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631899 Free PMC article.

2

Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.

Koiffmann CP, Diament A, de Souza DH, Wajntal A. Koiffmann CP, et al. J Med Genet. 1990 Jul;27(7):462-4. doi: 10.1136/jmg.27.7.462. J Med Genet. 1990. PMID: 2395166 Free PMC article.

3

Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?

Moretti-Ferreira D, Koiffmann CP, Souza DH, Diament AJ, Wajntal A. Moretti-Ferreira D, et al. Among authors: koiffmann cp. Am J Med Genet. 1989 Dec;34(4):548-51. doi: 10.1002/ajmg.1320340419. Am J Med Genet. 1989. PMID: 2624267

4

Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.

Koiffmann CP, Gonzalez CH, Vianna-Morgante AM, Kim CA, Odone-Filho V, Wajntal A. Koiffmann CP, et al. Am J Med Genet. 1995 Jul 31;58(1):46-9. doi: 10.1002/ajmg.1320580110. Am J Med Genet. 1995. PMID: 7573155 Review.

5

Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11.

Koiffmann CP, de Souza DH, Diament A, Ventura HB, Alves RS, Kihara S, Wajntal A. Koiffmann CP, et al. Am J Med Genet. 1993 Jun 15;46(5):529-33. doi: 10.1002/ajmg.1320460514. Am J Med Genet. 1993. PMID: 8322815 Review.

6

Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.

Moretti-Ferreira D, Koiffmann CP, Listik M, Setian N, Wajntal A. Moretti-Ferreira D, et al. Among authors: koiffmann cp. Am J Med Genet. 1993 Jun 15;46(5):555-8. doi: 10.1002/ajmg.1320460519. Am J Med Genet. 1993. PMID: 8322820

7

Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q.

Fridman C, Varela MC, Nicholls RD, Koiffmann CP. Fridman C, et al. Among authors: koiffmann cp. Clin Genet. 1998 Oct;54(4):303-8. doi: 10.1034/j.1399-0004.1998.5440407.x. Clin Genet. 1998. PMID: 9831341

8

Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.

Fridman C, Varela MC, Kok F, Diament A, Koiffmann CP. Fridman C, et al. Among authors: koiffmann cp. Am J Med Genet. 2000 Jun 19;92(5):322-7. doi: 10.1002/1096-8628(20000619)92:5<322::aid-ajmg6>3.0.co;2-y. Am J Med Genet. 2000. PMID: 10861661

9

Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome.

Fridman C, Koiffmann CP. Fridman C, et al. Among authors: koiffmann cp. Am J Med Genet. 2000 Sep 18;94(3):249-53. doi: 10.1002/1096-8628(20000918)94:3<249::aid-ajmg12>3.0.co;2-x. Am J Med Genet. 2000. PMID: 10995513

10

Prader-Willi syndrome: genetic tests and clinical findings.

Fridman C, Varela MC, Kok F, Setian N, Koiffmann CP. Fridman C, et al. Among authors: koiffmann cp. Genet Test. 2000;4(4):387-92. doi: 10.1089/109065700750065144. Genet Test. 2000. PMID: 11216664

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