NF1 microdeletions in neurofibromatosis type 1: From genotype to phenotype

Human Mutation

Volumn 31, Issue 6, 2010, Pages

  Pasmant, Eric ^a,b   Sabbagh, Audrey ^a,b   Spurlock, Gill ^c   Laurendeau, Ingrid ^a   Grillo, Elisa ^a   Hamel, Marie José ^b   Martin, Ludovic ^d   Barbarot, Sébastien ^e   Leheup, Bruno ^f   Rodriguez, Diana ^g   Lacombe, Didier ^h   Dollfus, Hélène ⁱ   Pasquier, Laurent ^j   Isidor, Bertrand ^k   Ferkal, Salah ^l   Soulier, Jean ^m,n   Sanson, Marc ^o   Dieux Coeslier, Anne ^p   Bièche, Ivan ^a,b   Parfait, Béatrice ^a,b   Vidaud, Michel ^a,b   Wolkenstein, Pierre ^l   Upadhyaya, Meena ^c   Vidaud, Dominique ^a,b   more..

^a INSERM   (France)

^b BEAUJON HOSPITAL   (France)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d UNIVERSITÉ D'ANGERS   (France)

^e HÔTEL DIEU   (France)

^f HÔPITAL D ENFANTS   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h HÔPITAL PELLEGRIN   (France)

ⁱ UNIVERSITÉ DE STRASBOURG   (France)

^j UNIVERSITÉ DE RENNES 1   (France)

^k NANTES UNIVERSITY HOSPITAL   (France)

^l HENRI MONDOR HOSPITAL   (France)

^m SAINT LOUIS HOSPITAL   (France)

ⁿ UNIVERSITÉ PARIS DIDEROT   (France)

^o PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^p LILLE UNIVERSITY HOSPITAL   (France)

more..

Author keywords

Genotype phenotype correlation; High resolution custom CGH; Neurofibromatosis type 1; NF1 locus microdeletion; Standardized phenotype questionnaire; Type 3 NF1 microdeletion

Indexed keywords

NEUROFIBROMIN;

ADULT; ARTICLE; BLUE RED MACULE; CAFE AU LAIT SPOT; CONTROLLED STUDY; FACE DYSMORPHIA; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LEARNING DISORDER; LENTIGO; LISCH NODULE; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEUROFIBROMA; NEUROFIBROMATOSIS; NEVUS; NUCLEOTIDE SEQUENCE; OPTIC NERVE GLIOMA; PRIORITY JOURNAL; SCOLIOSIS; SKIN MANIFESTATION; STOP CODON; COMPARATIVE GENOMIC HYBRIDIZATION; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; MUTATION; PATHOLOGY; PHENOTYPE; REGRESSION ANALYSIS; YOUNG ADULT;

ADULT; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PHENOTYPE; REGRESSION ANALYSIS; SEQUENCE DELETION; YOUNG ADULT;

EID: 77952679995     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21271     Document Type: Article

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