Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

Journal of Medical Genetics

Volumn 49, Issue 11, 2012, Pages 698-707

  Legendre, Marine ^a,b   Gonzales, Marie ^c,d   Goudefroye, Géraldine ^a   Bilan, Frédéric ^b,e   Parisot, Pauline ^a   Perez, Marie José ^f   Bonnière, Maryse ^a   Bessières, Bettina ^a   Martinovic, Jelena ^g   Delezoide, Anne Lise ^h,i   Jossic, Frédérique ^j   Fallet Bianco, Catherine ^c   Bucourt, Martine ^k   Tantau, Julia ^l   Loget, Philippe ^m   Loeuillet, Laurence ⁿ   Laurent, Nicole ^o   Leroy, Brigitte ⁿ   Salhi, Houria ^l   Bigi, Nicole ^f   Rouleau, Caroline ^p   Guimiot, Fabien ^h,i   Quélin, Chloé ^q   Bazin, Anne ^r   Alby, Caroline ^a   Ichkou, Amale ^a   Gesny, Roselyne ^a   Kitzis, Alain ^b,e   Ville, Yves ^a,h   Lyonnet, Stanislas ^a,h   Razavi, Ferechte ^a,h   Gilbert Dussardier, Brigitte ^b   Vekemans, Michel ^a,h   Attié Bitach, Tania ^a,h   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b POITIERS UNIVERSITY HOSPITAL   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e UNIVERSITÉ DE POITIERS   (France)

^f HÔPITAL ARNAUD DE VILLENEUVE   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h UNIVERSITÉ PARIS DESCARTES   (France)

ⁱ HÔPITAL ANTOINE BÉCLÈRE   (France)

^j Service d'urologie Université et Hôpital de Nantes   (France)

^k HÔPITAL JEAN VERDIER   (France)

^l Hôpital Jean Verdier APHP ^*  (France)

^m PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

ⁿ CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^o DIJON UNIVERSITY HOSPITAL   (France)

^p LAPEYRONIE HOSPITAL   (France)

^q SERVICE DE RHUMATOLOGIE   (France)

^r LABORATOIRE CERBA   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHD7 PROTEIN; DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ARHINENCEPHALY; ARTICLE; AUTOPSY; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CRANIOFACIAL DYSMORPHISM; EXTERNAL EAR MALFORMATION; FEMALE; FETUS; FETUS DEATH; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HYDRAMNIOS; LIMB MALFORMATION; MALE; MECKEL DIVERTICULUM; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEMICIRCULAR CANAL AGENESIS; SEQUENCE ANALYSIS; SEX RATIO; SYNDROME CHARGE; URINARY TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; CHARGE SYNDROME; CHILD; DNA HELICASES; DNA-BINDING PROTEINS; FEMALE; FETUS; HUMANS; MALE; MUTATION; PHENOTYPE; PREGNANCY; PREGNANCY COMPLICATIONS; RETROSPECTIVE STUDIES;

EID: 84870291656     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100926     Document Type: Article

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