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TITLE: Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
AUTHORS: Justyna A Karolak; Qian Liu; Nina N G Xie; Lucia R Wu; Gustavo Rocha; Susana Fernandes; Luk Ho Ming; Ivan F Lo; David Mowat; Elizabeth K Fiorino; Morris Edelman; Joyce Fox; Denise A Hayes; David Witte; Ashley Parrott; Edwina Popek; Przemyslaw Szafranski; David Y Zhang; Pawel Stankiewicz;
PUBLISHED: 2020, SOURCE: JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 22, ISSUE: 4
INDEXED IN: Scopus WOS
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TITLE: Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain  Full Text
AUTHORS: Partha Sen; Yaping P Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; Julian J Garvin; John Petty; Zeina Kiblawi; Craig Zuppan; Allyn McConkie Rosell; Marie T McDonald; Stacey L Peterson Carmichael; Jane T Gaede; Binoy Shivanna; Deborah Schady; Philippe S Friedlich; Stephen R Hays; Irene Valenzuela Palafoll; Ulrike Siebers Renelt; Axel Bohring; Laura S Finn; Joseph R Siebert; Csaba Galambos; Lananh Nguyen; Melissa Riley; Nicolas Chassaing; Adeline Vigouroux; Gustavo Rocha; Susana Fernandes; Jane Brumbaugh; Kari Roberts; Luk, HM; Ivan F M Lo; Stephen Lam; Romana Gerychova; Marta Jezova; Iveta Valaskova; Florence Fellmann; Katayoun Afshar; Eric Giannoni; Vincent Muhlethaler; Jinlong L Liang; Jacques S Beckmann; Janet Lioy; Hitesh Deshmukh; Lakshmi Srinivasan; Daniel T Swarr; Melissa Sloman; Charles Shaw Smith; Rosa Laura van Loon; Cecilia Hagman; Yves Sznajer; Catherine Barrea; Christine Galant; Thierry Detaille; Jennifer A Wambach; Sessions S Cole; Aaron Hamvas; Lawrence S Prince; Karin E M Diderich; Alice S Brooks; Robert M Verdijk; Hari Ravindranathan; Ella Sugo; David Mowat; Michael L Baker; Claire Langston; Stephen Welty; Pawel Stankiewicz; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 92
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TITLE: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP  Full Text
AUTHORS: Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destree; David Fitzpatrick; Francesca Forzano; Neeti Ghali; Greta Gillies; Katerina Harwood; Yvonne M C Hendriks; Delphine Heron; Alexander Hoischen; Engela Magdalena Honey; Lies H Hoefsloot; Jennifer Ibrahim; Claire M Jacob; Sarina G Kant; Chong Ae Kim; Edwin P Kirk; Nine V A M Knoers; Didier Lacombe; Chung Lee; Ivan F M Lo; Luiza S Lucas; Francesca Mari; Veronica Mericq; Jukka S Moilanen; Sanne Traasdahl Moller; Stephanie Moortgat; Daniela T Pilz; Kate Pope; Susan Price; Alessandra Renieri; Joaquim Sa; Jeroen Schoots; Elizabeth L Silveira; Marleen E H Simon; Anne Slavotinek; Karen K Temple; Ineke van der Burgt; Bert B A de Vries; James D Weisfeld Adams; Margo L Whiteford; Dagmar Wierczorek; Jan M Wit; Connie Fung On Yee; Chandree L Beaulieu; Sue M White; Dennis E Bulman; Ernie Bongers; Han Brunner; Murray Feingold; Kym M Boycott; ...More
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef