Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cellsEDAMURA, Kerrie Nichol; LEONARD, Michelle R; PEARSON, Christopher E et al.American journal of human genetics. 2005, Vol 76, Num 2, pp 302-311, issn 0002-9297, 10 p.Article

Should chromosome breakage studies be performed in patients with VACTERL association?FAIVRE, Laurence; PORTNOÏ, Marie France; BAUMANN, Clarisse et al.American journal of medical genetics. 2005, Vol 137A, Num 1, pp 55-58, issn 0148-7299, 4 p.Article

TERMINAL DELETION 6q SYNDROME WITH 11q PARTIAL TRISOMY MOSAICISM DUE TO MATERNAL BALANCED TRANSLOCATIONIMATAKA, G; OKUYA, M; HIRAO, J et al.Genetic counseling. 2014, Vol 25, Num 1, pp 63-67, issn 1015-8146, 5 p.Article

A RARE SUBTELOMERIC DELETION SYNDROME: WOLF HIRSCHHORN SYNDROMEZORLU, P; EKSIOGLU, A. S; OZKAN, M et al.Genetic counseling. 2014, Vol 25, Num 3, pp 299-303, issn 1015-8146, 5 p.Article

ISOLATED ECTRODACTYLY IN A NEWBORN WITH DOWN SYNDROMEKAVURT, S; CELIK, I. H; ADA, B. S et al.Genetic counseling. 2014, Vol 25, Num 2, pp 209-214, issn 1015-8146, 6 p.Article

PRENATAL DIAGNOSIS OF ISOCHROMOSOME 21p AND ISOCHROMOSOME 21q IN A FETUS WITH DOWN SYNDROMEYAKUT, S; SANHAL, C; MANGUOGLU, E et al.Genetic counseling. 2014, Vol 25, Num 3, pp 257-264, issn 1015-8146, 8 p.Article

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Concrete and relational vocabulary: Comparison between Williams and Smith-Magenis syndromesGARAYZABAL HEINZE, Elena; OSORIO, Ana; LENS, María et al.Research in developmental disabilities (Print). 2014, Vol 35, Num 12, pp 3365-3371, issn 0891-4222, 7 p.Article

PARTIAL TRISOMY 3p AND MONOSOMY 5p DIAGNOSED BY SPECTRAL KARYOTYPING (SKY)IMATAKA, G; TSUBOI, T; KURIBAYASHI, R et al.Genetic counseling. 2013, Vol 24, Num 4, pp 445-448, issn 1015-8146, 4 p.Article

Preimplantation Genetic Diagnosis for Complex Chromosome RearrangementsESCUDERO, T; ESTOP, A; FISCHER, J et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 13, pp 1662-1669, issn 1552-4825, 8 p.Article

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assayBOYES, L; WALLACE, A. J; KRAJEWSKA-WALASEK, M et al.European journal of medical genetics. 2006, Vol 49, Num 6, pp 472-480, issn 1769-7212, 9 p.Article

Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocationKUPCHIK, Gabriel S; BARRETT, Shannon K; BABU, Arvind et al.European journal of medical genetics. 2005, Vol 48, Num 1, pp 57-65, issn 1769-7212, 9 p.Article

Mosaic trisomy 22 : Report of a patient with normal intelligenceFLOREZ, Luisa; LACASSIE, Yves.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 223-225, issn 0148-7299, 3 p.Article

Multiple aneuploidy recurrenceCAVALLI, Pietro; LUONGO, Roberto.American journal of medical genetics. 2005, Vol 137A, Num 1, pp 104-105, issn 0148-7299, 2 p.Article

Pfeiffer type cardiocranial syndrome and van nesselrooij syndrome : Variable manifestations of a single disorder?RASALAM, Adelene D; DEAN, John C. S.American journal of medical genetics. 2005, Vol 132A, Num 2, issn 0148-7299, p. 209Article

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndromeFERNANDEZ, L; LAPUNZINA, P; GARCIA-ALIX, A et al.Clinical genetics. 2005, Vol 68, Num 4, pp 373-378, issn 0009-9163, 6 p.Article

Deletion and duplication screening in the DMD gene using MLPALALIC, Tanja; VOSSEN, Rolf H. A. M; COFFA, Jordy et al.European journal of human genetics. 2005, Vol 13, Num 11, pp 1231-1234, issn 1018-4813, 4 p.Article

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2DIGILIO, M. Cristina; MARINO, Bruno; CAPOLINO, Rossella et al.American journal of medical genetics. 2005, Vol 134A, Num 2, pp 158-164, issn 0148-7299, 7 p.Article

Functional disomy of the Xq28 chromosome regionSANLAVILLE, Damien; PRIEUR, Marguerite; CORMIER-DAIRE, Valerie et al.European journal of human genetics. 2005, Vol 13, Num 5, pp 579-585, issn 1018-4813, 7 p.Article

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic herniaSHIMOKAWA, Osamu; MIYAKE, Noriko; TAKASHIMA, Takeshi et al.American journal of medical genetics. 2005, Vol 136A, Num 1, pp 49-51, issn 0148-7299, 3 p.Article

Recurrent adjacent-2 segregation of a familial t (14;21 ) (q11.2;q11.2 ) : phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)CHEN, Emily; CHOE, Michele A; LOUGHMAN, William D et al.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 164-170, issn 0148-7299, 7 p.Article

Three patients with terminal deletions within the subtelomeric region of chromosome 9qNEAS, Katherine R; SMITH, Janine M; CHIA, Nicole et al.American journal of medical genetics. 2005, Vol 132A, Num 4, pp 425-430, issn 0148-7299, 6 p.Article

Trisomy 15q25.2-qter in an autistic child: Genotype-phenotype correlationsBONATI, Maria Teresa; FINELLI, Palma; GIARDINO, Daniela et al.American journal of medical genetics. 2005, Vol 133A, Num 2, pp 184-188, issn 0148-7299, 5 p.Article

Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21RIEGEL, M; HARGREAVES, P; BAUMER, A et al.European journal of medical genetics. 2005, Vol 48, Num 2, pp 167-174, issn 1769-7212, 8 p.Article

Donepezil effects on language in children with Down syndrome: Results of the first 22-week pilot clinical trialHELLER, James H; SPIRIDIGLIOZZI, Gail A; DORAISWAMY, P. Murali et al.American journal of medical genetics. 2004, Vol 130A, Num 3, pp 325-326, issn 0148-7299, 2 p.Article