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Results 1 to 25 of 30

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What's new in the neuro-cardio-facial-cutaneous syndromes?DENAYER, Ellen; LEGIUS, Eric.European journal of pediatrics. 2007, Vol 166, Num 11, pp 1091-1098, issn 0340-6199, 8 p.Article

Gustatory Flushing (Auriculotemporal Nerve Syndrome) in Children with Neurofibromatosis Type 1 and Facial Plexiform NeurofibromasLISTERNICK, Robert; LEGIUS, Eric; CHARROW, Joel et al.The Journal of pediatrics. 2011, Vol 158, Num 6, issn 0022-3476, p. 1034Article

A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with Visual attention TasksSTEYAERT, Jean; LEGIUS, Eric; BORGHGRAEF, Martine et al.American journal of medical genetics. 2003, Vol 116A, Num 1, pp 44-51, issn 0148-7299, 8 p.Article

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasTHOMAS, Laura; SPURLOCK, Gill; UPADHYAYA, Meena et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 411-419, issn 1018-4813, 9 p.Article

Clinical and Mutational Spectrum of Neurofibromatosis Type 1―like SyndromeMESSIAEN, Ludwine; SUXIA YAO; BOBELE, Gary et al.JAMA, the journal of the American Medical Association. 2009, Vol 302, Num 19, pp 2111-2118, issn 0098-7484, 8 p.Article

Has the Prevalence of Congenital Abnormalities after Intracytoplasmic Sperm Injection Increased? The Leuven Data 1994-2000 and a Review of the LiteratureHINDRYCKX, An; PEERAER, Karen; DEBROCK, Sophie et al.Gynecologic and obstetric investigation. 2010, Vol 70, Num 1, pp 11-22, issn 0378-7346, 12 p.Article

Genomic organization and evolution of the NF1 microdeletion regionDE RAEDT, Thomas; BREMS, Hilde; LOPEZ-CORREA, Catalina et al.Genomics (San Diego, Calif.). 2004, Vol 84, Num 2, pp 346-360, issn 0888-7543, 15 p.Article

Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patientsCLAES, Erna; EVERS-KIEBOOMS, Gerry; BOOGAERTS, Andrea et al.American journal of medical genetics. 2003, Vol 116A, Num 1, pp 11-19, issn 0148-7299, 9 p.Article

Semilobar holoprosencephaly in a 46,XY female fetusWITTERS, Ingrid; MOERMAN, Philippe; MUENKE, Maximilian et al.Prenatal diagnosis. 2001, Vol 21, Num 10, pp 839-841, issn 0197-3851Article

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patientsHOPMAN, Saskia M. J; MERKS, Johannes H. M; VERLOES, Alain et al.European journal of cancer (1990). 2013, Vol 49, Num 15, pp 3247-3254, issn 0959-8049, 8 p.Article

Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel AssociationBREMS, Hilde; PARK, Caroline; SLOAN, Jennifer L et al.Cancer research (Chicago, Ill.). 2009, Vol 69, Num 18, pp 7393-7401, issn 0008-5472, 9 p.Article

Screening for FMR-1 premutations in 122 older flemish males presenting with ataxiaVAN ESCH, Hilde; DOM, Rene; BEX, Dorien et al.European journal of human genetics. 2005, Vol 13, Num 1, pp 121-123, issn 1018-4813, 3 p.Article

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)GALLIONE, Carol J; REPETTO, Gabriela M; LEGIUS, Eric et al.Lancet (British edition). 2004, Vol 363, Num 9412, pp 852-859, issn 0140-6736, 8 p.Article

Observations on Intelligence and Behavior in 15 Patients With Leqius SyndromeDENAYER, Ellen; DESCHEEMAEKER, Mie-Jef; LEGIUS, Eric et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 2, pp 123-128, issn 1552-4868, 6 p.Article

Prophylactic mastectomy in familial breast carcinoma. What do the pathologic findings learn us?LEUNEN, Karin; DRIJKONINGEN, Maria; NEVEN, Patrick et al.Breast cancer research and treatment. 2008, Vol 107, Num 1, pp 79-86, issn 0167-6806, 8 p.Article

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patientsMAERTENS, Ophélia; PRENEN, Hans; SPELEMAN, Frank et al.Human molecular genetics (Print). 2006, Vol 15, Num 6, pp 1015-1023, issn 0964-6906, 9 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

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinningSCHOLLEN, Els; MATTHIJS, Gert; GEWILLIG, Marc et al.European journal of human genetics. 2003, Vol 11, Num 1, pp 85-88, issn 1018-4813, 4 p.Article

Cardiac involvement and CTG expansion in myotonic dystrophyMERLEVEDE, Karen; VERMANDER, Dimitri; THEYS, Paul et al.Journal of neurology. 2002, Vol 249, Num 6, pp 693-698, issn 0340-5354Article

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndromeBABOVIC-VUKSANOVIC, D; MESSIAEN, Ludwine; CLAES, Kathleen et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 618-625, issn 1018-4813, 8 p.Article

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1MAERTENS, Ophélia; DE SCHEPPER, Sofie; VANDESOMPELE, Jo et al.American journal of human genetics. 2007, Vol 81, Num 2, pp 243-251, issn 0002-9297, 9 p.Article

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletionDE RAEDT, Thomas; STEPHENS, Matthew; VIDAUD, Dominique et al.Nature genetics. 2006, Vol 38, Num 12, pp 1419-1423, issn 1061-4036, 5 p.Article

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaKOHL, Susanne; VARSANYI, Balazs; JURKLIES, Bernhard et al.European journal of human genetics. 2005, Vol 13, Num 3, pp 302-308, issn 1018-4813, 7 p.Article

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6QING ZHANG; ZHAO, Baohui; ROE, Bruce A et al.Nature genetics. 2003, Vol 33, Num 2, pp 145-153, issn 1061-4036, 9 p.Article

The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 (NF1) as a Paradigm for Translational ResearchACOSTA, Maria T; BEARDEN, Carrie E; NORTH, Kathryn et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2225-2232, issn 1552-4825, 8 p.Article

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