Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Mohamad Hasan Kariminejad"'
Autor:
Perrine Pennamen, Caroline Rooryck, Yves Sznajer, Anne-Karin Kahlert, Isolina Riaño-Galán, Denny Schanze, David J. Amor, Eva Bermejo-Sánchez, Maie Walsh, Ariana Kariminejad, Siavash Ghaderi-Sohi, Mohamad Hasan Kariminejad, Ian P Hayes, Sönke Weinert, Patrick J. Morrison, Patrick Shannon, Martin Zenker, Gemma Poke, Annick Toutain, Suonavy Khung‐Savatovsky, Heinrich Sticht, David Chitayat, Fatima Abdelfattah, Evren Gumus, Marie-Laure Vuillaume, Katherine D. Mathews, Sabine Weidensee, Luisa Weiß, Benjamin W. Darbro
Publikováno v:
Scopus
RUO: Repositorio Institucional de la Universidad de Oviedo
Universidad de Oviedo (UNIOVI)
Repisalud
Instituto de Salud Carlos III (ISCIII)
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Abdelfattah, F, Kariminejad, A, Kahlert, AK, Morrison, P J, Gumus, E, Mathews, K D, Darbro, B W, Amor, D J, Walsh, M, Sznajer, Y, Weiß, L, Weidensee, S, Chitayat, D, Shannon, P, Bermejo-Sánchez, E, Riaño-Galán, I, Hayes, I, Poke, G, Rooryck, C, Pennamen, P, Khung-Savatovsky, S, Toutain, A, Vuillaume, ML, Ghaderi-Sohi, S, Kariminejad, M H, Weinert, S, Sticht, H, Zenker, M & Schanze, D 2020, ' Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders ', Human Mutation, vol. 41, no. 9, pp. 1615-1628 . https://doi.org/10.1002/humu.24067
RUO: Repositorio Institucional de la Universidad de Oviedo
Universidad de Oviedo (UNIOVI)
Repisalud
Instituto de Salud Carlos III (ISCIII)
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Abdelfattah, F, Kariminejad, A, Kahlert, AK, Morrison, P J, Gumus, E, Mathews, K D, Darbro, B W, Amor, D J, Walsh, M, Sznajer, Y, Weiß, L, Weidensee, S, Chitayat, D, Shannon, P, Bermejo-Sánchez, E, Riaño-Galán, I, Hayes, I, Poke, G, Rooryck, C, Pennamen, P, Khung-Savatovsky, S, Toutain, A, Vuillaume, ML, Ghaderi-Sohi, S, Kariminejad, M H, Weinert, S, Sticht, H, Zenker, M & Schanze, D 2020, ' Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders ', Human Mutation, vol. 41, no. 9, pp. 1615-1628 . https://doi.org/10.1002/humu.24067
Financial assistance was received in support of the study by grants from the German Federal Ministry of Education and Research (BMBF) (GeNeRARe, FKZ: 01GM1519D) to M. Z. and from the Institute of Health Carlos III: Convenio ISCIII‐ASEREMAC, and Fun
Autor:
Mohamad Hasan Kariminejad, Dana S'aulis, Elham Keshavarz, Ariana Kariminejad, William B. Rizzo, Bita Bozorgmehr, Mohammadreza Barzgar
Publikováno v:
European journal of medical genetics. 61(3)
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. We describe 7
Autor:
Bita Bozorgmehr, Rita Kretz, Matthias R. Baumgartner, Mohamad Hasan Kariminejad, Ingrid Hausser, Cecilia Giunta, Alessandra Baumer, Ariana Kariminejad, Johannes Häberle, Marianne Rohrbach
Publikováno v:
Journal of Inherited Metabolic Disease. 34:731-739
Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia o
Autor:
Ariana Kariminejad, Hamid Najafi, Reinhard Ullmann, Andreas Tzschach, Hans-Hilger Ropers, Alischo Ahmed, Roxana Kariminejad, Mohamad Hasan Kariminejad
Publikováno v:
American Journal of Medical Genetics Part A. :2651-2655
Autor:
Anna Wedell, Malcolm G. MacKenzie, Siavash Ghaderi-Sohi, Ariana Kariminejad, Rolph Pfundt, Magnus Nordenskjöld, Maartje van de Vorst, Peter Conner, Anna Wredenberg, Marloes Steehouwer, Alexander Hoischen, Nursel Elcioglu, Hülya Kayserili, Hamidreza Setayesh, Denny Schanze, Birgit Krabichler, Cynthia J. Curry, Gabriele Gillessen-Kaesbach, Christoph Freyer, Kym M. Boycott, Ann Nordgren, Christian Gilissen, Andreas R. Janecke, Giedre Grigelioniene, Mohamad Hasan Kariminejad, Rocio Acuna-Hidalgo, Dagmar Wieczorek, Daniel Nilsson, Martin Zenker, Payman Goodarzi
Publikováno v:
American Journal of Human Genetics, 95, 285-293
American Journal of Human Genetics, 95, 3, pp. 285-293
American Journal of Human Genetics, 95, 3, pp. 285-293
Contains fulltext : 136372.pdf (Publisher’s version ) (Closed access) Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality.
Autor:
Bita Bozorgmehr, Fransiska Malfait, Daniela Quaglino, Mohammad Jakir Hosen, Abdolhamid Najafi, Ariana Kariminejad, Raoul C.M. Hennekam, Hossein Najmabadi, Arthur A.B. Bergen, Olivier Vanakker, Maryam Ghalandari, Ralph J. Florijn, Atefeh Khoshaeen, Mohamad Hasan Kariminejad
Publikováno v:
Journal of Investigative Dermatology, 134(9), 2331-8. Nature Publishing Group
Journal of investigative dermatology, 134(9), 2331-2338. Nature Publishing Group
Journal of investigative dermatology, 134(9), 2331-2338. Nature Publishing Group
Gamma-glutamyl carboxylase (GGCX) mutations have been reported in patients with a pseudoxanthoma elasticum (PXE)–like phenotype, loose redundant skin, and multiple vitamin K–dependent coagulation factor deficiencies. We report on the clinical fin
Publikováno v:
American journal of medical genetics. Part A. (12)
We report on a male fetus with amelia, cleft lip, and holoprosencephaly. We compare the clinical findings in our patient with those of previously reported cases with the most clinical overlap. To date only four cases with bilateral limb amelia, CNS a
Autor:
Nima Rezaei, Marshall S. Horwitz, Kathleen F. Benson, Valeh Hadavi, Joanna Luty, Stephen J. Salipante, Roxana Kariminejad, Mohamad Hasan Kariminejad
Publikováno v:
Human mutation. 28(9)
Heterozygous mutations of ELA2, encoding the protease neutrophil elastase (NE), cause either autosomal dominant cyclic neutropenia or severe congenital neutropenia (SCN). Three hypotheses have been proposed for how allelic mutations produce these dif
Autor:
Faten Merhi-Soussi, Delfien Syx, Suzanne Vanhauwaert, Ariana Kariminejad, Fransiska Malfait, Mohamad Hasan Kariminejad, Andy Willaert, Caroline Gauche, Sandrine Gulberti, Tim Van Damme, Sofie Symoens, Ingrid Hausser, Ann Huysseune, Nazanin Ebrahimiadib, Sylvie Fournel-Gigleux, Anne De Paepe, Bita Bozorgmehr
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92 (6), pp.935-945. ⟨10.1016/j.ajhg.2013.04.016⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92 (6), pp.935-945. ⟨10.1016/j.ajhg.2013.04.016⟩
International audience; Proteoglycans are important components of cell plasma membranes and extracellular matrices of connective tissues. They consist of glycosaminoglycan chains attached to a core protein via a tetrasaccharide linkage, whereby the a