12q14 Microdeletion Syndrome and Short Stature With or Without Relative MacrocephalyTAKENOUCHI, Toshiki; ENOMOTO, Keisuke; NISHIDA, Toshihiko et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2542-2544, issn 1552-4825, 3 p.Article

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotypeVAN BON, Bregje W. M; KOOLEN, David A; DALLA BERNARDINA, Bernardo et al.European journal of human genetics. 2010, Vol 18, Num 2, pp 163-170, issn 1018-4813, 8 p.Article

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growthLYNCH, Sally Ann; FOULDS, Nicola; COSTIGAN, Colm et al.European journal of human genetics. 2011, Vol 19, Num 5, pp 534-539, issn 1018-4813, 6 p.Article

Minimal Clinical Findings in a Patient With 15qter Microdeletion Syndrome: Delineation of the Associated PhenotypeJEZELA-STANEK, Aleksandra; KUCHARCZYK, Marzena; PELC, Magdalena et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 922-926, issn 1552-4825, 5 p.Article

Familial 16q24.3 Microdeletion Involving ANKRD11 Causes a KBG-Like SyndromeSACHAROW, Stephanie; DELING LI; YAO SHAN FAN et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 3, pp 547-552, issn 1552-4825, 6 p.Article

A Novel Interstitial Microdeletion of 7q22.1-7q22.3 Detected by Array Comparative Genomic HybridizationAL-HASSNAN, Zuhair N; AL-BAKHEET, Albandary; ABU-DHEIM, Nada et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 12, pp 3128-3131, issn 1552-4825, 4 p.Article

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion SyndromesSHLIEN, Adam; BASKIN, Berivan; NOVOKMET, Ana et al.American journal of human genetics. 2010, Vol 87, Num 5, pp 631-642, issn 0002-9297, 12 p.Article

Tracheobronchial anomalies in chromosome 22q11.2 microdeletionBERTOLANI, Maria Francesca; BERGAMINI, Barbara Maria; PREDIERI, Barbara et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 7, pp 790-793, issn 1552-4825, 4 p.Article

2q31.1 microdeletion syndrome: redefining the associated clinical phenotypeDIMITROV, Boyan; BALIKOVA, Irina; FRYNS, Jean-Pierre et al.Journal of medical genetics. 2011, Vol 48, Num 2, pp 98-104, issn 0022-2593, 7 p.Article

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesBRUNO, Damien L; ANDERLID, Britt-Marie; KOOY, R. Frank et al.Journal of medical genetics. 2010, Vol 47, Num 5, pp 299-311, issn 0022-2593, 13 p.Article

Clinical and molecular delineation of the 17q21.31 microdeletion syndromeKOOLEN, D. A; SHARP, A. J; GRISART, B et al.Journal of medical genetics. 2008, Vol 45, Num 11, pp 710-720, issn 0022-2593, 11 p.Article

Pontocerebellar Hypoplasia in Association With De Novo 19p13.11p13.12 MicrodeletionGALLANT, Natalie M; BALDWIN, Erin; SALAMON, Noriko et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 11, pp 2871-2878, issn 1552-4825, 8 p.Article

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2BALLIF, B. C; THEISEN, A; MCDONALD-MCGINN, D. M et al.Clinical genetics. 2008, Vol 74, Num 5, pp 469-475, issn 0009-9163, 7 p.Article

From chromosomes to molecular karyotyping : MAPH : from gels to microarraysPATSALIS, Philippos C; KOUSOULIDOU, Ludmila; SISMANI, Carolina et al.European journal of medical genetics. 2005, Vol 48, Num 3, pp 241-249, issn 1769-7212, 9 p.Article

Further Evidence for the Pathogenicity of 15q24 Microduplications Distal to the Minimal Critical RegionsROETZER, Katharina M; SCHWARZBRAUN, Thomas; OBENAUF, Anna C et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 12, pp 3173-3178, issn 1552-4825, 6 p.Article

Further clinical and molecular delineation of the 15q24 microdeletion syndromeMEFFORD, Heather C; ROSENFELD, Jill A; COOK, Joseph et al.Journal of medical genetics. 2012, Vol 49, Num 2, pp 110-118, issn 0022-2593, 9 p.Article

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?JAILLARD, S; DUBOURG, C; DAVID, V et al.Journal of medical genetics. 2009, Vol 46, Num 12, pp 847-855, issn 0022-2593, 9 p.Article

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypesROSENFELD, Jill A; TRAYLOR, Ryan N; BRADLEY SCHAEFER, G et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 754-761, issn 1018-4813, 8 p.Article

Ebstein Anomaly: Genetic Heterogeneity and Association With Microdeletions 1p36 and 8p23.1DIGILIO, Maria Cristina; BERNARDINI, Laura; NOVELLI, Antonio et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 9, pp 2196-2202, issn 1552-4825, 7 p.Article

Alu-related 5q35 microdeletions in Sotos syndromeMOCHIZUKI, J; SAITSU, H; MIZUGUCHI, T et al.Clinical genetics. 2008, Vol 74, Num 4, pp 384-391, issn 0009-9163, 8 p.Article

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicismKOOLEN, David A; DUPONT, Juliette; DE VRIES, Bert B. A et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 729-733, issn 1018-4813, 5 p.Article

What can we learn from old microdeletion syndromes using array-CGH screening?MOSCA-BOIDRON, A. L; BOUQUILLON, S; MANOUVRIER-HANU, S et al.Clinical genetics. 2012, Vol 82, Num 1, pp 41-47, issn 0009-9163, 7 p.Article

Epigenetic Profiling of the H19 Differentially Methylated Region and Comprehensive Whole Genome Array-Based Analysis in Silver—Russell SyndromeLIN, Shin-Yu; LEE, Chien-Nan; CHEN, Lang-Yao et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 10, pp 2521-2528, issn 1552-4825, 8 p.Article

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHBARBER, John C. K; MALONEY, Viv K; ZWOLINSKI, Simon et al.European journal of human genetics. 2008, Vol 16, Num 1, pp 18-27, issn 1018-4813, 10 p.Article

Microdeletion of 16p11.2 Associated With Endocardial FibroelastosisPUVABANDITSIN, Surasak; NAGAR, Michael S; JOSHI, Meera et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 9, pp 2383-2386, issn 1552-4825, 4 p.Article