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TITLE: MISSENSE MED12 VARIANTS IN 22 MALES WITH INTELLECTUAL DISABILITY: FROM NON-SPECIFIC SYMPTOMS TO COMPLETE SYNDROMES  Full Text
AUTHORS: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisbeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Ma; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Csaszar, Andrea; Karteszi, Judit; Bessenyei, Beata; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; ...More
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals  Full Text
AUTHORS: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa Aranzasti, Amaia; Lesca, Gaetan; Lopez Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar; ...More
PUBLISHED: 2023, SOURCE: HUMAN GENETICS
INDEXED IN: Scopus WOS
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TITLE: Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology  Full Text
AUTHORS: Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P.; Filges, Isabel; Sparks, Teresa N.; Lapunzina, Pablo; Roscioli, Tony; Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C.; Collardeau Frachon, Sophie; Dempsey, Esther A.; Dufke, Andreas; Duyzend, Michael Henri; el Ghosh, Mirna; Giordano, Jessica L.; Glad, Ragnhild; Grinfelde, Ieva; Iliescu, Dominic G.; Ladewig, Markus S.; Munoz Torres, Monica C.; Pollazzon, Marzia; Radio, Francesca Clementina; Rodo, Carlota; Silva, Raquel Gouveia; Smedley, Damian; Sundaramurthi, Jagadish Chandrabose; Toro, Sabrina; Valenzuela, Irene; Vasilevsky, Nicole A.; Wapner, Ronald J.; Zemet, Roni; Haendel, Melissa A.; Robinson, Peter N.; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
INDEXED IN: Scopus WOS
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TITLE: Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes  Full Text
AUTHORS: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisabeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Maria; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Csaszar, Andrea; Karteszi, Judit; Bessenyei, Beata; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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: 96