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Prenatal Diagnosis, ISSN 0197-3851, 06/2016, Volume 36, Issue 6, pp. 561 - 567
Background CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. Diagnostic criteria have been proposed to improve diagnosis... 
CRITERIA | HEART-DISEASE | MALFORMATIONS | CHOANAL ATRESIA | GENETICS & HEREDITY | MULTIPLE ANOMALIES | CHD7 GENE | PROPOSAL | MUTATIONS | SPECTRUM | ASSOCIATION | OBSTETRICS & GYNECOLOGY | Urogenital Abnormalities - diagnostic imaging | Fetal Growth Retardation - diagnostic imaging | Humans | Infant | Male | Kidney | Ear, External - diagnostic imaging | Craniofacial Abnormalities - diagnostic imaging | Cleft Lip - diagnostic imaging | Female | Retrospective Studies | CHARGE Syndrome - diagnostic imaging | Heart Septal Defects - diagnostic imaging | DNA Helicases - genetics | Infant, Newborn | Ureter - abnormalities | Polyhydramnios - diagnostic imaging | DNA-Binding Proteins - genetics | Thymus Gland - diagnostic imaging | Pregnancy | Ear, External - abnormalities | Thymus Gland - abnormalities | Phenotype | Cerebral Ventricles - abnormalities | Cerebral Ventricles - diagnostic imaging | Ultrasonography, Prenatal | Ureter - diagnostic imaging | Medicine, Experimental | Medical research | Diagnostic imaging | Genetic disorders | Diagnosis | Pregnant women | Neuroimaging | Brain | Congenital defects | Fetuses | Criteria | Medical diagnosis | Choanal atresia | Magnetic resonance imaging | Congenital anomalies | CHARGE syndrome | Diagnostic systems | Mutation | Children | Ultrasound | Microphthalmia | Life Sciences | Human health and pathology | Infectious diseases
Journal Article
Annals of Neurology, ISSN 0364-5134, 11/2018, Volume 84, Issue 5, pp. 788 - 795
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 773 - 788
Journal Article
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 06/2013, Volume 162B, Issue 4, pp. 388 - 403
Journal Article
Experimental Cell Research, ISSN 0014-4827, 2008, Volume 314, Issue 11, pp. 2199 - 2211
The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein is a chloride channel localized at the apical plasma membrane of epithelial cells. We... 
Endosomal SNARE proteins | Protein–protein interactions | Trafficking | CFTR | Recycling endosome | Protein-protein interactions | LOCALIZATION | MDCK CELLS | COMPLEX | recycling endosome | CHLORIDE CHANNELS | FUSION | CL CHANNEL | protein-protein interactions | CELL BIOLOGY | TRANSMEMBRANE CONDUCTANCE REGULATOR | ONCOLOGY | SYNTAXIN 1A | trafficking | APICAL MEMBRANE | endosomal SNARE proteins | CYSTIC-FIBROSIS GENE | rab GTP-Binding Proteins - metabolism | Cell Line | Epithelial Cells - metabolism | R-SNARE Proteins - genetics | SNARE Proteins - genetics | Humans | Qb-SNARE Proteins - metabolism | R-SNARE Proteins - metabolism | Qb-SNARE Proteins - genetics | Protein Transport - physiology | rab GTP-Binding Proteins - genetics | Cystic Fibrosis Transmembrane Conductance Regulator - metabolism | Recombinant Fusion Proteins - metabolism | Endosomes - metabolism | Animals | RNA Interference | Iodides - metabolism | Qa-SNARE Proteins - metabolism | Qa-SNARE Proteins - genetics | Recombinant Fusion Proteins - genetics | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Epithelial Cells - cytology | SNARE Proteins - metabolism | Proteins | Cystic fibrosis | Plasma | Membranes | Cellular biology | Life Sciences | Human health and pathology | Biomolecules | Molecular Networks | Biochemistry, Molecular Biology | Pulmonology and respiratory tract
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 2017, Volume 22, Issue 6, pp. 836 - 849
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article