Koiffmann CP - Search Results

1

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.

Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Shaw-Smith C, et al. Among authors: koiffmann cp. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163

2

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

3

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

4

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

5

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

Fridman C, Hosomi N, Varela MC, Souza AH, Fukai K, Koiffmann CP. Fridman C, et al. Among authors: koiffmann cp. Am J Med Genet A. 2003 Jun 1;119A(2):180-3. doi: 10.1002/ajmg.a.20105. Am J Med Genet A. 2003. PMID: 12749060

6

Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).

Varela MC, Lopes GM, Koiffmann CP. Varela MC, et al. Among authors: koiffmann cp. Ann Genet. 2004 Jul-Sep;47(3):267-73. doi: 10.1016/j.anngen.2004.01.003. Ann Genet. 2004. PMID: 15337472 Review.

7

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

Varela MC, Kok F, Otto PA, Koiffmann CP. Varela MC, et al. Among authors: koiffmann cp. Eur J Hum Genet. 2004 Dec;12(12):987-92. doi: 10.1038/sj.ejhg.5201264. Eur J Hum Genet. 2004. PMID: 15470370

8

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.

Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Varela MC, et al. Among authors: koiffmann cp. Clin Genet. 2005 Jan;67(1):47-52. doi: 10.1111/j.1399-0004.2005.00377.x. Clin Genet. 2005. PMID: 15617548

9

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP. D'Angelo CS, et al. Among authors: koiffmann cp. Eur J Med Genet. 2006 Nov-Dec;49(6):451-60. doi: 10.1016/j.ejmg.2006.02.001. Epub 2006 Mar 10. Eur J Med Genet. 2006. PMID: 16564757

10

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

Varela MC, Krepischi-Santos AC, Paz JA, Knijnenburg J, Szuhai K, Rosenberg C, Koiffmann CP. Varela MC, et al. Among authors: koiffmann cp. Cytogenet Genome Res. 2006;114(1):89-92. doi: 10.1159/000091934. Cytogenet Genome Res. 2006. PMID: 16717456

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