Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A replyKEHRER-SAWATZKI, Hildegard; MESSIAEN, Ludwine.Human genetics. 2003, Vol 113, Num 2, pp 188-190, issn 0340-6717, 3 p.Article

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletionVERMEULEN, Stefan; MESSIAEN, Ludwine; SCHEIR, Petra et al.American journal of medical genetics. 2002, Vol 108, Num 4, pp 315-318, issn 0148-7299Article

Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1DE SCHEPPER, Sofie; JANSSENS, Sandra; MESSIAEN, Ludwine et al.Dermatology (Basel). 2004, Vol 209, Num 3, pp 223-227, issn 1018-8665, 5 p.Article

Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals : hyperpigmentation of a different kind?DE SCHEPPER, Sofie; BOUCNEAU, Joachim; VANDER HAEGHEN, Yves et al.Archives of dermatological research (Print). 2006, Vol 297, Num 10, pp 439-449, issn 0340-3696, 11 p.Article

Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis Type 2CARLSON, Matthew L; BABOVIC-VUKSANOVIC, Dusica; MESSIAEN, Ludwine et al.Journal of neurosurgery. 2010, Vol 112, Num 1, pp 81-87, issn 0022-3085, 7 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

An interstitial deletion of chromosome 7 at band q21 : A case report and reviewCORN-TENS, Winnie; VERMEULEN, Stefan; WUYTS, Wim et al.American journal of medical genetics. 2005, Vol 134A, Num 1, pp 12-23, issn 0148-7299, 12 p.Article

Aberrant splicing in several human tumors in the tumor suppressor genes Neurofibromatosis type 1, Neurofibromatosis type 2, and Tuberous sclerosis 2KAUFMANN, Dieter; LEISTNER, Werner; KRUSE, Petra et al.Cancer research (Baltimore). 2002, Vol 62, Num 5, pp 1503-1509, issn 0008-5472Article

Molecular Characterization of a Patient With an Interstitial 1q Deletion [del(1)(q24.1q25.3)] and Distinctive Skeletal AbnormalitiesDESCARTES, Maria; HAIN, Julie Zenger; CONKLIN, Michael et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 22, pp 2937-2943, issn 1552-4825, 7 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

Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis CVAN VLIERBERGHE, Hans; DELANGHE, Joris R; DE BIE, Sylvia et al.European journal of gastroenterology & hepatology. 2001, Vol 13, Num 9, pp 1077-1081, issn 0954-691XArticle

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPESDE BAERE, Elfride; FUKUSHIMA, Yoshimitsu; SMALL, Kent et al.Genomics (San Diego, Calif.). 2000, Vol 68, Num 3, pp 296-304, issn 0888-7543Article

Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumorsVAN ROY, Nadine; VAN GELE, Mireille; VAN MARCK, Erik et al.Cancer genetics and cytogenetics. 2003, Vol 143, Num 2, pp 120-124, issn 0165-4608, 5 p.Article

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

Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes. CommentaryDIWAKAR, Ganesh; HORNYAK, Thomas J; DE SCHEPPER, Sofie et al.Journal of investigative dermatology. 2006, Vol 126, Num 3, issn 0022-202X, 547-550,653-659 [11 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

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/ del(18p) recombinant chromosomeVERMEULEN, Stefan J; SPELEMAN, Frank; VANRANSBEECK, Leen et al.European journal of human genetics. 2005, Vol 13, Num 1, pp 52-58, issn 1018-4813, 7 p.Article

Neurofibromatosis-noonan Syndrome : Molecular evidence of the concurrence of both disorders in a patientBERTOLA, Debora R; PEREIRA, Alexandre C; PASSETTI, Fabio et al.American journal of medical genetics. 2005, Vol 136A, Num 3, pp 242-245, issn 0148-7299, 4 p.Article

FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationDE BAERE, Elfride; BEYSEN, Diane; GARZA, Arturo et al.American journal of human genetics. 2003, Vol 72, Num 2, pp 478-487, issn 0002-9297, 10 p.Article

Double inactivation of NF1 in tibial pseudarthrosisSTEVENSON, David A; ZHOU, Holly; ASHRAFI, Shadi et al.American journal of human genetics. 2006, Vol 79, Num 1, pp 143-148, issn 0002-9297, 6 p.Article

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)YARDLEY, Jill; LEROY, Bart P; BARALLE, Diana et al.Investigative ophthalmology & visual science. 2004, Vol 45, Num 10, pp 3683-3689, issn 0146-0404, 7 p.Article