The outcome of diagnostic studies on the etiology of mental retardation : Considerations on the classification of the causesMOOG, Ute.American journal of medical genetics. 2005, Vol 137A, Num 2, pp 228-231, issn 0148-7299, 4 p.Article

Is sanfilippo type b in your mind when you see adults with mental retardation and behavioral problems?MOOG, Ute; VAN MIERLO, Ingrid; VAN SCHROJENSTEIN LANTMAN-DE VALK, Henny M. J et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2007, Vol 145, Num 3, pp 293-301, issn 1552-4868, 9 p.Article

Intragenic Deletions of IL1RAPL1: Report of Two Cases and Review of the LiteratureBEHNECKE, Anne; HINDERHOFER, Katrin; BARTSCH, Oliver et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 2, pp 372-379, issn 1552-4825, 8 p.Article

A Small Terminal Deletion 11q in a Boy Without Jacobsen Syndrome: Narrowingthe Critical Region for the 11q Jacobsen Syndrome PhenotypeEVERS, Christina; JANSSEN, Johannes W. G; JAUCH, Anna et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 3, pp 680-684, issn 1552-4825, 5 p.Article

Rett Syndrome: A Study of the FaceALLANSON, Judith E; HENNEKAM, Raoul C. M; MOOG, Ute et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 7, pp 1563-1567, issn 1552-4825, 5 p.Article

Acampomelic campomelic syndromeMOOG, Ute; JANSEN, N. J. G; SCHERER, G et al.American journal of medical genetics. 2001, Vol 104, Num 3, pp 239-245, issn 0148-7299Article

Brain Anomalies in Encephalocraniocutaneous LipomatosisMOOG, Ute; JONES, Marilyn C; VISKOCHIL, David H et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 24, pp 2963-2972, issn 1552-4825, 10 p.Article

Encephalocraniocutaneous Lipomatosis Accompanied by the Formation of Bone Cysts : Harboring Clues to Pathogenesis?MOOG, Ute; ROELENS, Filip; MORTIER, Geert R et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 24, pp 2973-2980, issn 1552-4825, 8 p.Article

Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell FeaturesSPENGLER, Sabrina; BEGEMANN, Matthias; BLÜMEL, Peter et al.The Journal of pediatrics. 2012, Vol 161, Num 5, pp 933-942, issn 0022-3476, 10 p.Article

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyRAUCH, Anita; WIECZOREK, Dagmar; DUFKE, Andreas et al.Lancet (British edition). 2012, Vol 380, Num 9854, pp 1674-1682, issn 0140-6736, 9 p.Article

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationBERKEL, Simone; MARSHALL, Christian R; BONIN, Michael et al.Nature genetics. 2010, Vol 42, Num 6, pp 489-491, issn 1061-4036, 3 p.Article

Phenotypic spectrum associated with CASK loss-of-function mutationsMOOG, Ute; KUTSCHE, Kerstin; ENGELS, Hartmut et al.Journal of medical genetics. 2011, Vol 48, Num 11, pp 741-751, issn 0022-2593, 11 p.Article

Homozygous Loss of CHARM7 on Chromosome 15q13.3 Causes Severe Encephalopathy With Seizures and HypotoniaENDRIS, Volker; HACKMANN, Karl; RAPPOLD, Gudrun et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 11, pp 2908-2911, issn 1552-4825, 4 p.Article

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesENDELE, Sabine; ROSENBERGER, Georg; HELLENBROICH, Yorck et al.Nature genetics. 2010, Vol 42, Num 11, pp 1021-1026, issn 1061-4036, 6 p.Article

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsENGELS, Hartmut; WOHLLEBER, Eva; WILLATT, Lionel et al.European journal of human genetics. 2009, Vol 17, Num 12, pp 1592-1599, issn 1018-4813, 8 p.Article

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionPRINTS, Suzanna Gerarda Maria; LENZNER, Steffen; TZSCHACH, Andreas et al.European journal of human genetics. 2008, Vol 16, Num 9, pp 1029-1037, issn 1018-4813, 9 p.Article

A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKLHAEMMERLING, Susanne; BEHNISCH, Wolfgang; JANSSEN, Johannes W. G et al.British journal of haematology. 2012, Vol 157, Num 2, pp 180-187, issn 0007-1048, 8 p.Article

Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. CommentaryVERHOEVEN, W. M. A; CSEPAN, R; MARCELIS, C. L. M et al.Acta psychiatrica scandinavica. 2010, Vol 122, Num 2, pp 162-166, issn 0001-690X, 5 p.Article

Recombination hotspot in NF1 microdeletion patientsLOPEZ-CORREA, Catalina; DORSCHNER, Michael; FRYNS, Jean-Pierre et al.Human molecular genetics (Print). 2001, Vol 10, Num 13, pp 1387-1392, issn 0964-6906Article