Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: Evidence for closely related clinical entities of unknown molecular bases

Acta Neuropathologica

Volumn 126, Issue 3, 2013, Pages 427-442

  Adle Biassette, Homa ^a,b,c   Saugier Veber, Pascale ^b,d,e   Fallet Bianco, Catherine ^f   Delezoide, Anne Lise ^b,c,g   Razavi, Férecheté ^h   Drouot, Nathalie ^d   Bazin, Anne ⁱ   Beaufrère, Anne Marie ^j   Bessières, Bettina ^h   Blesson, Sophie ^k   Bucourt, Martine ^l   Carles, Dominique ^m   Devisme, Louise ⁿ   Dijoud, Frédérique ^o   Fabre, Blandine ^p   Fernandez, Carla ^q   Gaillard, Dominique ^r   Gonzales, Marie ^s   Jossic, Frédérique ^t   Joubert, Madeleine ^t   Laurent, Nicole ^u   Leroy, Brigitte ^v   Loeuillet, Laurence ^v   Loget, Philippe ^w   Marcorelles, Pascale ^x   Martinovic, Jelena ^y   Perez, Marie José ^z   Satge, Daniel ^aa   Sinico, Martine ^ab   Tosi, Mario ^b,e   Benichou, Jacques ^d   Gressens, Pierre ^b,c   Frebourg, Thierry ^b,d,e   Laquerrière, Annie ^d,e,ac   more..

^a HÔPITAL LARIBOISIÈRE   (France)

^b INSERM   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d ROUEN UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY OF ROUEN   (France)

^f CENTRE HOSPITALIER SAINTE ANNE   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ LABORATOIRE CERBA   (France)

^j UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^k UNIVERSITÉ DE TOURS   (France)

^l HÔPITAL JEAN VERDIER   (France)

^m HÔPITAL PELLEGRIN   (France)

ⁿ LILLE UNIVERSITY HOSPITAL   (France)

^o HOSPICES CIVILS DE LYON   (France)

^p GRENOBLE UNIVERSITY HOSPITAL   (France)

^q TIMONE HOSPITAL   (France)

^r REIMS UNIVERSITY HOSPITAL   (France)

^s ARMAND TROUSSEAU HOSPITAL   (France)

^t NANTES UNIVERSITY HOSPITAL   (France)

^u DIJON UNIVERSITY HOSPITAL   (France)

^v CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^w RENNES UNIVERSITY HOSPITAL   (France)

^x BREST UNIVERSITY HOSPITAL   (France)

^y HÔPITAL ANTOINE BÉCLÈRE   (France)

^z MONTPELLIER UNIVERSITY HOSPITAL   (France)

^aa Hospital Tulle   (France)

^ab Créteil Hospital   (France)

^ac HÔpital Universitaire de Rouen Rouen   (France)

more..

Author keywords

Differential diagnosis; Foetal neuropathology; L1 like syndrome; L1CAM genetic testing; X linked hydrocephalus

Indexed keywords

AUTOPSY; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN AQUEDUCT; BRAIN REGION; CORPUS CALLOSUM; FETUS; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; HYDROCEPHALUS; INTRON; L1CAM GENE; MALE; MISSENSE MUTATION; NEUROPATHOLOGY; NEWBORN; NONSENSE MUTATION; PREDICTIVE VALUE; PRIORITY JOURNAL; REVIEW;

ABNORMALITIES, MULTIPLE; CEREBRAL AQUEDUCT; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; MUTATION; NERVOUS SYSTEM DISEASES; NEURAL CELL ADHESION MOLECULE L1; PEDIGREE; PHENOTYPE; PREGNANCY;

EID: 84883463315     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-013-1146-1     Document Type: Review

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