Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Human Mutation

Volumn 34, Issue 6, 2013, Pages 801-811

  Sen, Partha ^a   Yang, Yaping ^a   Navarro, Colby ^a   Silva, Iris ^a   Szafranski, Przemyslaw ^a   Kolodziejska, Katarzyna E ^a   Dharmadhikari, Avinash V ^a   Mostafa, Hasnaa ^a   Kozakewich, Harry ^b   Kearney, Debra ^a   Cahill, John B ^c   Whitt, Merrissa ^c   Bilic, Masha ^c   Margraf, Linda ^d   Charles, Adrian ^e   Goldblatt, Jack ^e   Gibson, Kathleen ^f   Lantz, Patrick E ^f   Garvin, A Julian ^f   Petty, John ^f   Kiblawi, Zeina ^g   Zuppan, Craig ^h   Mcconkie Rosell, Allyn ⁱ   Mcdonald, Marie T ⁱ   Peterson Carmichael, Stacey L ⁱ   Gaede, Jane T ⁱ   Shivanna, Binoy ^a   Schady, Deborah ^a   Friedlich, Philippe S ^j   Hays, Stephen R ^k   Palafoll, Irene Valenzuela ^l   Siebers Renelt, Ulrike ^m   Bohring, Axel ^m   Finn, Laura S ⁿ   Siebert, Joseph R ⁿ   Galambos, Csaba ^o   Nguyen, Lananh ^o   Riley, Melissa ^o   Chassaing, Nicolas ^p   Vigouroux, Adeline ^p   Rocha, Gustavo ^q   Fernandes, Susana ^r   Brumbaugh, Jane ^s   Roberts, Kari ^s   Ho ming, Luk ^t   Lo, Ivan F M ^t   Lam, Stephen ^t   Gerychova, Romana ^u   Jezova, Marta ^u   Valaskova, Iveta ^u   Fellmann, Florence ^v   Afshar, Katayoun ^v   Giannoni, Eric ^v   Muhlethaler, Vincent ^v   Liang, Jinlong ^w   Beckmann, Jacques S ^v,x   Lioy, Janet ^y   Deshmukh, Hitesh ^y   Srinivasan, Lakshmi ^y   Swarr, Daniel T ^y   Sloman, Melissa ^z   Shaw Smith, Charles ^z   van Loon, Rosa Laura ^aa   Hagman, Cecilia ^ab   Sznajer, Yves ^ac   Barrea, Catherine ^ac   Galant, Christine ^ac   Detaille, Thierry ^ac   Wambach, Jennifer A ^ad   Cole, F Sessions ^ad   Hamvas, Aaron ^ad   Prince, Lawrence S ^k   Diderich, Karin E M ^aa   Brooks, Alice S ^aa   Verdijk, Robert M ^aa   Ravindranathan, Hari ^ae   Sugo, Ella ^ae,af   Mowat, David ^ae,ag   Baker, Michael L ^a   Langston, Claire ^a   Welty, Stephen ^a   Stankiewicz, Pawel ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f WAKE FOREST SCHOOL OF MEDICINE   (United States)

^g HARBOR UCLA MEDICAL CENTER   (United States)

^h LOMA LINDA UNIVERSITY MEDICAL CENTER   (United States)

ⁱ DUKE UNIVERSITY MEDICAL CENTER   (United States)

^j UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^k VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^m UNIVERSITY OF MÜNSTER   (Germany)

ⁿ UNIVERSITY OF WASHINGTON   (United States)

^o UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^p CHU PURPAN   (France)

^q HOSPITAL DE SÃO JOÃO   (Portugal)

^r University of Porto   (Portugal)

^s UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^t DEPARTMENT OF HEALTH   (Hong Kong)

^u MASARYK UNIVERSITY   (Czech Republic)

^v LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^w BGI SHENZHEN   (China)

^x UNIVERSITY OF LAUSANNE   (Switzerland)

^y CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^z ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^aa ERASMUS MEDICAL CENTER   (Netherlands)

^ab LUND UNIVERSITY HOSPITAL   (Sweden)

^ac CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^ad WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ae SYDNEY CHILDREN'S HOSPITAL   (Australia)

^af PRINCE OF WALES HOSPITAL   (Australia)

^ag UNIVERSITY OF NEW SOUTH WALES   (Australia)

more..

Author keywords

ACD MPV; Angiogenesis; Development; FOXF1; Imprinting; Lung

Indexed keywords

ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ARTICLE; DNA BINDING MOTIF; EXON; FEMALE; FOXF1 GENE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC IDENTIFICATION; HEREDITY; HUMAN; INFANT; LUNG DEVELOPMENT; LUNG MALFORMATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSYNONYMOUS MUTATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; CHROMOSOME MAPPING; DATABASES, GENETIC; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DOSAGE; GENE ORDER; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPEN READING FRAMES; PERSISTENT FETAL CIRCULATION SYNDROME; PROTEIN INTERACTION DOMAINS AND MOTIFS; SEQUENCE ALIGNMENT;

EID: 84878146978     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22313     Document Type: Article

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