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1-4 of 4
Keywords: Cleft palate
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Journal Articles
Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates)
, Karger e-Journal Backfile Collection 2023
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Lisca Florence Wurfbain, Inge Lucia Cox, Maria Francisca van Dooren, Augusta Maria Antonia Lachmeijer, Virginie Johanna Maria Verhoeven, Johanna Maria van Hagen, Malou Heijligers, Jolien Sietske Klein Wassink - Ruiter, Saskia Koene, Saskia Mariska Maas, Hermine Elisabeth Veenstra - Knol, Johannes Kristian Ploos van Amstel, Maarten Pieter Gerrit Massink, Aebele Barber Mink van der Molen, Marie-José Henriette van den Boogaard
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (4): 270–282.
Published Online: 08 June 2023
..., instructions or products referred to in the content or advertisements. 2023 Cleft lip Cleft alveolus Cleft palate Genetics Gene panel Clefts of the lip, alveolus and/or palate (CLA/P) are a heterogeneous group of birth defects. Their common denominator is malfunctioning of fusion...
Journal Articles
Ghada M.H. Abdel-Salam, Hanan H. Afifi, Sahar N. Saleem, Mohamed I. Gadelhak, Manar A. El-Serafy, Inas S.M. Sayed, Mohamed S. Abdel-Hamid
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (5): 389–396.
Published Online: 27 April 2022
... from any ideas, methods, instructions or products referred to in the content or advertisements. Microcephaly PIEZO2 Dandy-Walker malformation Arthrogryposis Cleft palate de novo variant Continuum PIEZO family member 2 (PIEZO2, OMIM 613629) and PIEZO family member 1 (PIEZO1, OMIM...
Journal Articles
E. Petrova, C. Neuner, T. Haaf, M. Schmid, J. Wirbelauer, A. Jurkutat, K. Wermke, I. Nanda, E. Kunstmann
Journal:
Molecular Syndromology
Mol Syndromol (2014) 5 (1): 19–24.
Published Online: 02 November 2013
... development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before. Previously reported cases are reviewed, and the role of the BMPR1A gene is discussed. The phenotype of patients with an LCR3/4...
Journal Articles
L. Desmyter, M. Ghassibe, N. Revencu, O. Boute, M. Lees, G. François, C. Verellen-Dumoulin, Y. Sznajer, A. Moncla, H. Benateau, K. Claes, K. Devriendt, M. Mathieu, L. Van Maldergem, M.-C. Addor, V. Drouin-Garraud, G. Mortier, M. Bouma, A. Dieux-Coeslier, D. Genevieve, A. Goldenberg, A. Gozu, P. Makrythanasis, M. McEntagart, A. Sanchez, C. Vilain, S. Vermeer, F. Connell, J. Verheij, S. Manouvrier, G. Pierquin, S. Odent, M. Holder-Espinasse, C. Vincent-Delorme, Y. Gillerot, R. Vanwijck, B. Bayet, M. Vikkula
Journal:
Molecular Syndromology
Mol Syndromol (2010) 1 (2): 67–74.
Published Online: 09 June 2010
... to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance...