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Affichage: 4 résultats.
    • Article de périodique
    Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
    Ostrowski, Philip J Zachariou, Anna Loveday, Chey Baralle, Diana Blair, Edward Douzgou, Sofia Field, Michael Foster, Alison Kyle, Claire Lachlan, Katherine Mansour, Sahar Naik, Swati Rea, Gillian Smithson, Sarah Sznajer, Yves[UCL] Thompson, Elizabeth Cole, Trevor Tatton-Brown, Katrina (2019) American journal of medical genetics. Part C, Seminars in medical genetics — Vol. 181, no. 4, p. 638-643 (2019)
    • Article de périodique
    Myhre and LAPS syndromes: Clinical and molecular review of 32 patients
    Michot, Caroline Le Goff, Carine Mahaut, Clémentine Afenjar, Alexandra Brooks, Alice S Campeau, Philippe M. Destree, Anne Di Rocco, Maja Donnai, Dian Hennekam, Raoul Heron, Delphine Jacquemont, Sébastien Kannu, Peter Lin, Angela E. Manouvrier-Hanu, Sylvie Mansour, Sahar Marlin, Sandrine McGowan, Ruth Murphy, Helen Raas-Rothschild, Annick Rio, Marlène Simon, Marleen Stolte-Dijkstra, Irene Stone, James R Sznajer, Yves[UCL] Tolmie, John Touraine, Renaud Van Den Ende, Jenneke Van Der Aa, Nathalie Van Essen, Ton Verloes, Alain Munnich, Arnold Cormier-Daire, Valérie (2014) European Journal of Human Genetics — Vol. 22, no. 11, p. 1272-1277 (2014)
    • Article de périodique
    Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
    Ostergaard, Pia Simpson, Michael A Mendola, Antonella[UCL] Vasudevan, Pradeep Connell, Fiona C van Impel, Andreas Moore, Anthony T Loeys, Bart L Ghalamkarpour, Arash Onoufriadis, Alexandros Martinez-Corral, Ines Devery, Sophie Leroy, Jules G van Laer, Lut Singer, Amihood Bialer, Martin G McEntagart, Meriel Quarrell, Oliver Brice, Glen Trembath, Richard C Schulte-Merker, Stefan Makinen, Taija Vikkula, Miikka Mortimer, Peter S Mansour, Sahar Jeffery, Steve (2012) American journal of human genetics — Vol. 90, no.2, p. 356-62 (2012)
    • Article de périodique
    Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function
    Alpaslan, Murat[UCL] Fastré, Elodie Mestre, Sandrine van Haeringen, Arie Repetto, Gabriela M Keymolen, Kathelijn Boon, Laurence M.[UCL] Belva, Florence Giacalone, Guido[UCL] Revencu, Nicole[UCL] Sznajer, Yves[UCL] Riches, Katie Keeley, Vaughan Mansour, Sahar Gordon, Kristiana Martin-Almedina, Silvia Dobbins, Sara Ostergaard, Pia Quere, Isabelle[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2024) Human Molecular Genetics — Vol. 33, no. 14, p. 1250-1261 (2024)