Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Human Mutation

Volumn 33, Issue 1, 2012, Pages 64-72

  Whalen, Sandra ^a,b   Héron, Delphine ^a,b,c   Gaillon, Thierry ^d   Moldovan, Oana ^e   Rossi, Massimiliano ^f   Devillard, Françoise ^g   Giuliano, Fabienne ^h   Soares, Gabriela ⁱ   Mathieu Dramard, Michelle ^j   Afenjar, Alexandra ^a,b,k   Charles, Perrine ^a,b   Mignot, Cyril ^a,b,k   Burglen, Lydie ^k   Van Maldergem, Lionel ^d,l   Piard, Juliette ^l   Aftimos, Salim ^m   Mancini, Grazia ⁿ   Dias, Patricia ^e   Philip, Nicole ^o   Goldenberg, Alice ^p   Le Merrer, Martine ^q   Rio, Marlène ^q   Josifova, Dragana ^r   Van Hagen, Johanna Maria ^s   Lacombe, Didier ^t   Edery, Patrick ^f,u   Dupuis Girod, Sophie ^f   Putoux, Audrey ^f   Sanlaville, Damien ^f,u   Fischer, Richard ^v   Drévillon, Loïc ^d   Briand Suleau, Audrey ^d   Metay, Corinne ^d   Goossens, Michel ^d,w,x   Amiel, Jeanne ^q   Jacquette, Aurelia ^a,b   Giurgea, Irina ^d,w,x   more..

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b Centres de Référence Maladies Rares   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d HENRI MONDOR HOSPITAL   (France)

^e HOSPITAL DE SANTA MARIA   (Portugal)

^f HOSPICES CIVILS DE LYON   (France)

^g GRENOBLE UNIVERSITY HOSPITAL   (France)

^h CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

ⁱ NATIONAL INSTITUTE OF HEALTH   (Portugal)

^j AMIENS UNIVERSITY HOSPITAL   (France)

^k ARMAND TROUSSEAU HOSPITAL   (France)

^l UNIVERSITY HOSPITAL OF BESANÇON   (France)

^m AUCKLAND CITY HOSPITAL   (New Zealand)

ⁿ ERASMUS MEDICAL CENTER   (Netherlands)

^o TIMONE HOSPITAL   (France)

^p HÔPITAL CHARLES NICOLLE   (France)

^q HÔPITAL NECKER ENFANTS MALADES   (France)

^r GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^s VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^t UNIVERSITÉ DE BORDEAUX   (France)

^u UNIVERSITÉ LYON 1   (France)

^v JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^w INSERM U955   (France)

^x FACULTÉ DE MÉDECINE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 4; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BEHAVIOR; BREATHING DISORDER; CHILD; CRYPTORCHISM; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; EYE DISEASE; FEMALE; GASTROINTESTINAL DISEASE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE LOCATION; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; NEUROIMAGING; NEUROLOGIC DISEASE; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PITT HOPKINS SYNDROME; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SCOLIOSIS; SCORING SYSTEM; STOP CODON;

ADOLESCENT; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 18; DATABASES, GENETIC; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; HAPLOINSUFFICIENCY; HAPLOTYPES; HUMANS; HYPERVENTILATION; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION; SEQUENCE INVERSION; SEVERITY OF ILLNESS INDEX; TRANSCRIPTION FACTORS;

EID: 84857686531     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21639     Document Type: Article

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