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The new Wolf-Hirschhorn syndrome critical region (WHSCR-2) : A description of a second caseRODRIGUEZ, Laura; ZOLLINO, Marcella; CLIMENT, Salvador et al.American journal of medical genetics. 2005, Vol 136A, Num 2, pp 175-178, issn 0148-7299, 4 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

ASSOCIATION OF DOWN SYNDROME AND MORGAGNI HERNIAALPASLAN TASKIN, G; TUNCER, O; DEMIR, N et al.Genetic counseling. 2014, Vol 25, Num 3, pp 345-347, issn 1015-8146, 3 p.Article

PARTIAL MONOSOMY 8q AND PARTIAL TRISOMY 9q DUE TO THE MATERNAL TRANSLOCATION t(8;9)(q24.3;g34.1): A CASE REPORTTOS, T; ALP, M. Y; EKER, H. K et al.Genetic counseling. 2014, Vol 25, Num 1, pp 35-39, issn 1015-8146, 5 p.Article

A 45 X MALE PATIENT WITH 7q DISTAL DELETION AND REARRANGEMENT WITH SRY GENE TRANSLOCATION: A CASE REPORTBILEN, S; OKTEN, A; KARAGUZEL, G et al.Genetic counseling. 2013, Vol 24, Num 3, pp 299-305, issn 1015-8146, 7 p.Article

Breakpoint cloning and haplotype analysis indicate a single origin of the common inv(10)(p11.2q21.2) mutation among northern europeansGILLING, Mette; DULLINGER, Jörn S; KALSCHEUER, Vera M et al.American journal of human genetics. 2006, Vol 78, Num 5, pp 878-883, issn 0002-9297, 6 p.Article

A QF-PCR system to detect chromosome 13 aneuploidy from as few as ten cellsOSBORNE, Elissa C; TROUNSON, A. O; CRAM, D. S et al.American journal of medical genetics. 2005, Vol 134A, Num 1, pp 33-38, issn 0148-7299, 6 p.Article

Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate regionJAMES, Paul A; OEI, Paul; NG, Daniel et al.American journal of medical genetics. 2005, Vol 136A, Num 1, pp 12-16, issn 0148-7299, 5 p.Article

Association between maternal age and meiotic recombination for trisomy 21LAMB, Neil E; YU, Kai; SHAFFER, John et al.American journal of human genetics. 2005, Vol 76, Num 1, pp 91-99, issn 0002-9297, 9 p.Article

Autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20HALUSHLKA, Marc K; STETTEN, Gail; MCMICHAEL, Joseph L et al.American journal of medical genetics. 2005, Vol 135A, Num 2, pp 181-185, issn 0148-7299, 5 p.Article

Long term follow-up of developmental delay in a child with prenatally-diagnosed trisomy 20 mosaicismWALLERSTEIN, Robert; TWERSKY, Sivya; LAYMAN, Paige et al.American journal of medical genetics. 2005, Vol 137A, Num 1, pp 94-97, issn 0148-7299, 4 p.Article

Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISHLEE, J; STANLEY, J. R; VAZ, S. A et al.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 206-208, issn 0148-7299, 3 p.Article

Frequency of large CFTR gene rearrangements in Italian CF patientsBOMBIERI, Cristina; BONIZZATO, Alberto; CASTELLANI, Carlo et al.European journal of human genetics. 2005, Vol 13, Num 5, pp 687-689, issn 1018-4813, 3 p.Article

Inhibin A is a maternal serum marker for Down's syndrome early in the first trimesterCHRISTIANSEN, M; NORGAARD-PEDERSEN, B.Clinical genetics. 2005, Vol 68, Num 1, pp 35-39, issn 0009-9163, 5 p.Article

Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long armBOYD, Luke J; LIVINGSTON, Joseph S; BROWN, Michael G et al.American journal of medical genetics. 2005, Vol 138A, Num 4, pp 355-360, issn 0148-7299, 6 p.Article

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequencesBARBER, John C. K; THOMAS, N. Simon; LUNDSTEEN, Claes et al.European journal of human genetics. 2005, Vol 13, Num 3, pp 283-291, issn 1018-4813, 9 p.Article

Subtelomeric 6p deletion : Clinical, FISH, and array CGH characterization of two casesLE CAIGNEC, Cédric; DE MAS, Philippe; VINCENT, Marie-Claire et al.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 175-180, issn 0148-7299, 6 p.Article

Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformationsHAHNEMANN, Johanne M. D; NIR, Marta; FRIBERG, M et al.American journal of medical genetics. 2005, Vol 138A, Num 2, pp 150-154, issn 0148-7299, 5 p.Article

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of casesBUGGE, Merete; DELOZIER-BLANCHET, Celia; BAK, Mads et al.American journal of medical genetics. 2005, Vol 132A, Num 3, pp 310-313, issn 0148-7299, 4 p.Article

Unstable robertsonian translocations der(13;15)(q10;q10) : Heritable chromosome fission without phenotypic effect in two kindredsPERRY, Jo; WHITE, Sue M; THOMPSON, Elizabeth M et al.American journal of medical genetics. 2005, Vol 136A, Num 1, pp 25-30, issn 0148-7299, 6 p.Article

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration : evidence for a founder effectRUMP, P; LEMMINK, H. H; VERSCHUUREN-BEMELMANS, C. C et al.Neurogenetics (Oxford. Print). 2005, Vol 6, Num 4, pp 201-207, issn 1364-6745, 7 p.Article

A paternally derived inverted duplication of distal 14q with a terminal 14q deletionCHEN, Chih-Ping; CHERN, Schu-Rem; LIN, Shuan-Pei et al.American journal of medical genetics. 2005, Vol 139A, Num 2, pp 146-150, issn 0148-7299, 5 p.Article

Mos 46,XX,r(18).ish r(18)(18ptel-,18qtel-)/46,XX.ish del(18)(18ptel-) : An example for successive ring chromosome formationKELLERMAYER, Richard; GYARMATI, Judit; CZAKO, Marta et al.American journal of medical genetics. 2005, Vol 139A, Num 3, pp 234-235, issn 0148-7299, 2 p.Article

Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y)KUROSAWA, Kenji; HARADA, Naoki; SOSONKINA, Nadiya et al.American journal of medical genetics. 2004, Vol 130A, Num 3, pp 322-324, issn 0148-7299, 3 p.Article

Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)HOU, Jia-Woei.American journal of medical genetics. 2004, Vol 130A, Num 2, pp 200-203, issn 0148-7299, 4 p.Article

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