Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ali Abdullah Alfaiz"'
Autor:
Pasquelena De Nittis, Maria Teresa Pellico, Natascia Malerba, Bartolomeo Augello, Alexandre Reymond, Ali Abdullah Alfaiz, Giuseppe Merla, Leopoldo Zelante, Carmela Fusco
Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported that 17p13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0521b1d659d43a602f652bdeee3408a
http://hdl.handle.net/11588/891469
http://hdl.handle.net/11588/891469
Autor:
Giuseppina Vitiello, A. James Barkovich, Alexandre Reymond, Gaetano Terrone, Nicola Brunetti-Pierri, Nicolas Guex, Ennio Del Giudice, Alessandra D'Amico, Gerarda Cappuccio, Ali Abdullah Alfaiz, Norine Voisin
We report an 8-year-old boy with a complex cerebral malformation, intellectual disability, and complex partial seizures. Whole-exome sequencing revealed a yet unreported de novo variant in the PIK3R2 gene that was recently associated with megalenceph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a3a90623211816c4b3656edad888cc
http://hdl.handle.net/11588/634459
http://hdl.handle.net/11588/634459
Autor:
Alexandre Reymond, Clotilde Rivier, Patrick Edery, Ali Abdullah Alfaiz, Marianne Till, Nicolas Guex, Johannes M. Herrmann, Audrey Labalme, Julitta de Bellescize, Damien Sanlaville, Gaetan Lesca, Dorothée Ville, Verena Müller, Ioannis Xenarios, Vincent des Portes, Nadia Boutry-Kryza
West syndrome (WS), defined by the triad of infantile spasms, pathognomonic hypsarrhythmia and developmental regression, is a rare epileptic disease affecting about 1:3500 live births. To get better insights on the genetic of this pathology, we exome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4813657a667ae186cc973eb7592a740
https://europepmc.org/articles/PMC5070883/
https://europepmc.org/articles/PMC5070883/
Autor:
Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne M. Maillard, Ali Abdullah Alfaiz, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, Jacques S. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond, Robert Witwicki, Gérard Didelot, Ilse van der Werf, Ali A. Alfaiz, Marianna Zazhytska, Jacqueline Chrast, Aurélien Macé, Sven Bergmann, Zoltan Kutalik, Vanessa Siffredi, Flore Zufferey, Danielle Martinet, Frédérique Bena, Anita Rauch, Sonia Bouquillon, Bruno Delobel, Odile Boute, Bénédicte Duban-Bedu, Cédric Le Caignec, Bertrand Isidor, Jean Chiesa, Boris Keren, Brigitte Gilbert-Dussardier, Renaud Touraine, Dominique Campion, Caroline Rooryck Thambo, Michèle Mathieu-Dramard, Ghislaine Plessis, Frank Kooy, Hilde Peeters, Katrin Ounap, Anneke T. Vulto-van Silfhout, Bert B. de Vries, Ellen van Binsbergen, Ann Nordgren, Mafalda Mucciolo, Alessandra Renieri, Evica Rajcan-Separovic, John A. Philipps, Richard J. Ellis
Publikováno v:
American journal of human genetics, 96(5), 784-796. Cell Press
American journal of human genetics
American Journal of Human Genetics, 96, 5, pp. 784-96
American Journal of Human Genetics, 96(5), 784. Cell Press
American journal of human genetics, 96(5), 784-96. Cell Press
16p11.2 European Consortium 2015, ' A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology ', American journal of human genetics, vol. 96, no. 5, pp. 784-96 . https://doi.org/10.1016/j.ajhg.2015.04.002
American Journal of Human Genetics, 96, 784-96
American journal of human genetics
American Journal of Human Genetics, 96, 5, pp. 784-96
American Journal of Human Genetics, 96(5), 784. Cell Press
American journal of human genetics, 96(5), 784-96. Cell Press
16p11.2 European Consortium 2015, ' A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology ', American journal of human genetics, vol. 96, no. 5, pp. 784-96 . https://doi.org/10.1016/j.ajhg.2015.04.002
American Journal of Human Genetics, 96, 784-96
Item does not contain fulltext The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent genetic lesions in autism spectrum disorders (ASDs) and schizophre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4981bcb78f389f2c4242a28acb5843
https://pure.amc.nl/en/publications/a-potential-contributory-role-for-ciliary-dysfunction-in-the-16p112-600-kb-bp4bp5-pathology(acf5d89c-bed0-43e8-b61c-d793bebcc448).html
https://pure.amc.nl/en/publications/a-potential-contributory-role-for-ciliary-dysfunction-in-the-16p112-600-kb-bp4bp5-pathology(acf5d89c-bed0-43e8-b61c-d793bebcc448).html
Autor:
Tulay Guran, Juan C. Llerenar, Belinda Campos-Xavier, Luisa Bonafé, Giulio Superti-Furga, Guillerme Yamamoto, Ok Hwa Kim, Brian Stevenson, Esra Dikoglu, Deborah Bertola, Sheila Unger, Jong Hee Chae, Murat Derbent, Tae Joon Cho, Yasemin Alanay, Maria W. Górna, Andrea Superti-Furga, Ali Abdullah Alfaiz, Ioannis Xenarios, Alexandre Reymond
Publikováno v:
American journal of medical genetics. Part A. 167(7)
Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome (MIM 600373) was first described and named by Shehib et al, in 1991 in a single patient. The anomalies referred to in the acronym are as follows: cerebral-developmental delay, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f427aa43549598a3004187e13d51db19
https://pubmed.ncbi.nlm.nih.gov/25808063
https://pubmed.ncbi.nlm.nih.gov/25808063
Autor:
Ali Abdullah Alfaiz, Barbara Mandriani, Bartolomeo Augello, Ioannis Xenarios, Lucia Micale, Alexandre Reymond, Jacqueline Chrast, Maria Teresa Pellico, Giuseppe Merla, Leopoldo Zelante
Publikováno v:
HUMAN MUTATION
TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. Using exome sequencing, we identified two sisters homozy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::814786deb9f51089a6264dae684b4a78
https://pubmed.ncbi.nlm.nih.gov/24515783
https://pubmed.ncbi.nlm.nih.gov/24515783