Results 61 to 70 of about 64,652,082 (128)

An Acrofacial Dysostosis Case of Rodriguez Type [PDF]

Acrofacial dysostosis (AFD) is an extremely rare syndrome, characterized by severe mandibulofacial dysostosis and various limb anomalies. Based on the variation in limb deformities, two major types are recognized: (1) Nager?type AFD, presenting ...
Fujiwara, Kumiko, Natsume, Nagato, Inoue, Sayaka, Noguchi, Makoto, Zhou, Zhibo, Asututi, Ida ayu, Ruslin, Muhammad   +6 more
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Mandibulofacial dysostosis with alopecia results from ET(A)R gain-of-function mutations via allosteric effects on ligand binding

, 2023
Mutations of G protein–coupled receptors (GPCRs) cause various human diseases, but the mechanistic details are limited. Here, we establish p.E303K in the gene encoding the endothelin receptor type A (ET(A)R/EDNRA) as a recurrent mutation causing ...
Uchijima, Yasunobu, Ikeguchi, Mitsunori, Taro Kitazawa, Risa Kotani, Christopher T. Gordon, Véronique Pingault, Toru Ekimoto, Hiroki Kurihara, Kurihara, Hiroki, Mitsunori Ikeguchi, Ryo Sugiyama, Kotani, Risa, Gordon, Christopher T., Asai, Rieko, Akiyasu Iwase, Jeanne Amiel, Kurihara, Yukiko, Kitazawa, Taro, Iwase, Akiyasu, Sugiyama, Ryo, Pingault, Véronique, Gordon, Christopher, T, Ekimoto, Toru, Yasunobu Uchijima, Amiel, Jeanne, Rieko Asai, Yukiko Kurihara   +26 more
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Mandibulofacial dysostosis. description of rare case study

, 2018
У статті проаналізований випадок пацієнта віком 7 років, який народився із нижньощелепно-лицевим дизостозом. Під час збору анамнезу було з’ясовані особливості перебігу вагітності: антибіотико-терапія на п’ятому тижні вагітності, носій Torch, багатоводдя,
Дмитренко, Марина Іванівна, Дмитренко, Марина Ивановна, Dmytrenko, M. I.   +2 more
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Mandibulofacial dysostosis. Case report.

, 1995
A case of mandibulofacial dysostosis (Treacher Collins syndrome) is presented. Clinical features and skull radiographs revealed typical anomalies associated with the syndrome.
Beena, V., Anil, S., Vijayakumar, T., Remani, P., Ankathil, R.   +4 more
core  

Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia [PDF]

, 2015
The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal arch.
Moura, Priscila Padilha, Maria Leine Guion-Almeida, Patrick Nitschké, Katsanis, Nicholas, Guion-Almeida, Maria Leine, Nitschké, Patrick, Ernfors, Patrik, Priscila Padilha Moura, Christelle Golzio, Garib, Daniela Gamba, Nicholas Katsanis, Munnich, Arnold, Howard M. Saal, Arnold Munnich, Marie-Ange Delrue, Norine Voisin, Breton, Sylvain, Clouthier, David E., Weaver, David D., Masson, Cécile, Gordon, Christopher T., Oufadem, Myriam, Roseli Maria Zechi-Ceide, Picard, Arnaud, Hopkin, Robert J., Golzio, Christelle, Stanislas Lyonnet, Lacombe, Didier, Martin Biosse-Duplan, Hufnagel, Robert B., Robert J. Hopkin, Hiroki Kurihara, Biosse-Duplan, Martin, Saal, Howard M., Kurihara, Hiroki, Tavares, Andre L.P., David D. Weaver, Bole-Feysot, Christine, K. Nicole Weaver, Sébastien Pierrot, Myriam Oufadem, Weaver, K. Nicole, Sylvain Breton, Christopher T. Gordon, Lyonnet, Stanislas, Arnaud Picard, Nitschke´, Marie-Ange, Patrik Ernfors, Christine Bole-Feysot, Andre L.P. Tavares, Daniela Gamba Garib, Jeanne Amiel, Kurihara, Yukiko, Adameyko, Igor, Voisin, Norine, Delrue, Marie-Ange, David E. Clouthier, Pierrot, Se´bastien, Igor Adameyko, Cécile Masson, Robert B. Hufnagel, Madsen, Erik C., Amiel, Jeanne, Erik C. Madsen, Zechi-Ceide, Roseli Maria, Pierrot, Sébastien, Didier Lacombe, Yukiko Kurihara   +67 more
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Nager′s acrofacial dysostosis

, 2013
Acrofacial dysostosis (AFD) is a generic name for a variety of different but possibly related genetic disorders that result in craniofacial and limb malformations and are, therefore, categorized under oroacral disorders.
Kirty R Nandimath, Venkatesh G Naikmasur, Atul P Sattur, Arpita Rai   +3 more
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Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series

The Application of Clinical Genetics
Agata Kucińska,1 Lech Dudarewicz,1 Beata Anna Nowakowska,2 Maciej Geremek,2 Urszula Wysocka,1 Łukasz Przesór,1 Dobromiła Barańska,3 Piotr Grzelak,3 Agnieszka Gach1 1Department of Genetics, Polish Mother’s ...
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A   +8 more
doaj  

EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

, 2020
Pathogenic variants in the core spliceosome U5 snRNP gene EFTUD2/SNU114 cause the craniofacial disorder Mandibulofacial Dysostosis Guion-Almeida type (MFDGA).
Thomas, Huw, Pingault, Veronique, Attie-Bitach, Tania, Wood, Katherine, Buczek, Weronika, Newman, William; id_orcid, Gordon, Christopher, Hentges, Kathryn; id_orcid, Amiel, Jeanne, O'Keefe, Raymond; id_orcid, Varghese, Vinod   +10 more
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Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis.

, 1979
Macrostomus in the rabbit was diagnosed externally by the presence of papillae at the corners of the mouth. Internally the effect is on the zygomatic complex and is extremely variable.
Fox, R R, Crary, D D
core   +1 more source

Viable Ednramice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

, 2016
Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin ...
Sabrautzki, Sibylle;Sandholzer, Michael A;Lorenz-Depiereux, Bettina;Brommage, Robert;Przemeck, Gerhard;Vargas Panesso, Ingrid L;Vernaleken, Alexandra;Garrett, Lillian;Baron, Katharina;Yildirim, Ali Ö;Rozman, Jan;Rathkolb, Birgit;Gau, Christine;Hans, Wolfgang;Hoelter, Sabine M;Marschall, Susan;Stoeger, Claudia;Becker, Lore;Fuchs, Helmut;Gailus-Durner, Valerie;Klingenspor, Martin;Klopstock, Thomas;Lengger, Christoph;Stefanie, Leuchtenberger;Wolf, Eckhard;Strom, Tim M;Wurst, Wolfgang;de Angelis, Martin Hrab?
core   +1 more source