A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutationSTORA, Samantha; CONTE, Martine; CHOUERY, Eliane et al.European journal of medical genetics. 2009, Vol 52, Num 5, pp 341-343, issn 1769-7212, 3 p.Article

A new large deletion in the DFNB1 locus causes nonsyndromic hearing lossFELDMANN, Delphine; LE MARECHAL, Cédric; JONARD, Laurence et al.European journal of medical genetics. 2009, Vol 52, Num 4, pp 195-200, issn 1769-7212, 6 p.Article

Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arraysBEAUJARD, Marie-Paule; CHANTOT, Sandra; DUBOIS, Michèle et al.European journal of medical genetics. 2009, Vol 52, Num 5, pp 321-327, issn 1769-7212, 7 p.Article

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated casesSCHLUTH-BOLARD, Caroline; DELOBEL, Bruno; DUBOURG, Christèle et al.European journal of medical genetics. 2009, Vol 52, Num 5, pp 291-296, issn 1769-7212, 6 p.Article

Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient miceGIRIRAJAN, Santhosh; ELSEA, Sarah H.European journal of medical genetics. 2009, Vol 52, Num 4, pp 224-228, issn 1769-7212, 5 p.Article

Frank-ter Haar syndrome with unusual clinical featuresDUNDAR, Munis; SAATCI, Cetin; TASDEMIR, Sener et al.European journal of medical genetics. 2009, Vol 52, Num 4, pp 247-249, issn 1769-7212, 3 p.Article

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): Report of 16 fetal casesBESSIERES-GRATTAGLIANO, B; FOLIGUET, B; LETICEE, N et al.European journal of medical genetics. 2009, Vol 52, Num 6, pp 386-392, issn 1769-7212, 7 p.Article

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1THIENPONT, Bernard; DIMITRIADOU, Eftychia; THEODOROPOULOS, Katerina et al.European journal of medical genetics. 2009, Vol 52, Num 6, pp 393-397, issn 1769-7212, 5 p.Article

Emerging Microdeletion and Microduplication SyndromesVAN RAVENSWAAIJ-ARTS, Conny M. A; KLEEFSTRA, Tjitske.European journal of medical genetics. 2009, Vol 52, Num 2-3, issn 1769-7212, 87 p.Serial Issue

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literatureHANEMAAIJER, Nicolien; DIJKHUIZEN, Trijnie; HAADSMA, Maaike et al.European journal of medical genetics. 2009, Vol 52, Num 2-3, pp 116-119, issn 1769-7212, 4 p.Article

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndromeDE RAVEL, Thorny J; BALIKOVA, Irina; THIRY, Paul et al.European journal of medical genetics. 2009, Vol 52, Num 2-3, pp 120-122, issn 1769-7212, 3 p.Article

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defectsWILLEMSEN, Marjolein H; DE LEEUW, Nicole; PFUNDT, Rolph et al.European journal of medical genetics. 2009, Vol 52, Num 2-3, pp 134-139, issn 1769-7212, 6 p.Article

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literatureRAAS-ROTHSCHILD, Annick; DIJKHUIZEN, Trijnie; SIKKEMA-RADDATZ, Birgit et al.European journal of medical genetics. 2009, Vol 52, Num 2-3, pp 140-144, issn 1769-7212, 5 p.Article

14q12 Microdeletion syndrome and congenital variant of Rett syndromeANTONIETTA MENCARELLI, Maria; KLEEFSTRA, Tjitske; KATZAKI, Eleni et al.European journal of medical genetics. 2009, Vol 52, Num 2-3, pp 148-152, issn 1769-7212, 5 p.Article

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian populationALI REZA POUYA; SEYEDEH SEDIGHEH ABEDINI; BANIHASHEMI, Susan et al.European journal of medical genetics. 2009, Vol 52, Num 4, pp 170-173, issn 1769-7212, 4 p.Article

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairmentYEUNG, Alison; BRUNO, Damien; SCHEFFER, Ingrid E et al.European journal of medical genetics. 2009, Vol 52, Num 6, pp 440-442, issn 1769-7212, 3 p.Article

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter → 22ql2.1 : Clinical, cytogenetic and molecular observationsVAGLIO, Alicia; MILUNSKY, Aubrey; HUANG, Xin-Li et al.European journal of medical genetics. 2008, Vol 51, Num 4, pp 332-342, issn 1769-7212, 11 p.Article

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45EJONARD, Laurence; FELDMANN, Delphine; MARLIN, Sandrine et al.European journal of medical genetics. 2008, Vol 51, Num 1, pp 35-43, issn 1769-7212, 9 p.Article

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delayANDRIEUX, Joris; RICHEBOURG, Steven; DUBAN-BEDU, Bénédicte et al.European journal of medical genetics. 2008, Vol 51, Num 4, pp 373-381, issn 1769-7212, 9 p.Article

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome : Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosisZECHI-CEIDE, Roseli Maria; OLIVEIRA, Nélio Alessando Jesus; LEINE GUION-ALMEIDA, Maria et al.European journal of medical genetics. 2008, Vol 51, Num 3, pp 183-196, issn 1769-7212, 14 p.Article

Maternal uniparental disomy 7 and Silver-Russell syndrome : Clinical update and comparison with other subgroupsKOTZOT, Dieter.European journal of medical genetics. 2008, Vol 51, Num 5, pp 444-451, issn 1769-7212, 8 p.Article

MesiodensVAN BUGGENHOUT, Griet; BAILLEUL-FORESTIER, Isabelle.European journal of medical genetics. 2008, Vol 51, Num 2, pp 178-181, issn 1769-7212, 4 p.Article

Mild Smith-Lemli-Opitz syndrome : Further delineation of 5 Polish cases and review of the literatureJEZELA-STANEK, A; CIARA, E; MALUNOWICZ, E. M et al.European journal of medical genetics. 2008, Vol 51, Num 2, pp 124-140, issn 1769-7212, 17 p.Article

No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patientsSCHÖHERR, Nadine; JÄGER, Susanne; RANKE, Michael B et al.European journal of medical genetics. 2008, Vol 51, Num 4, pp 322-324, issn 1769-7212, 3 p.Article

1.4 Mb recurrent 22qll.2 distal deletion syndrome, two new cases expand the phenotypeRØDNINGEN, Olaug K; PRESCOTT, Trine; ERIKSSON, Ann-Sofie et al.European journal of medical genetics. 2008, Vol 51, Num 6, pp 646-650, issn 1769-7212, 5 p.Article