Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Alexander, Pepler"'
Autor:
Sam Bradbrook, Gail Graham, Melissa Carter, Maria Kibaek, Martin Larsen, Christina Fagerberg, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Bertrand Isidor, Stéphane Bezieau, Benjamin Cogné, Marie Vincent, Katherine Bjorgo, Thomas Courtin, Lisa Emrick, Jill Rosenfeld, Undiagnosed Diseases Network, Julian Martinez-Agosto, Mathilde Heulin, Gilles Morin, Pauline Monin, Louis Januel, Marie-Noëlle Bonnet-Dupeyron, Mathilde Pujalte, Kim Worley, Monika Weisz-Hubshman, Patricia Dickson, Michelle Thompson, Julien Marcadier
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101322- (2024)
Externí odkaz:
https://doaj.org/article/ba5df6977d904fa8a6136b3eb91a3ba4
Publikováno v:
European journal of medical genetics. 66(1)
Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) is a rare autosomal recessive genetic disease belonging to glycosylphosphatidylinositols biosynthesis defects (GPIBD), a group of recessive disorders characterized by intellect
Autor:
Margarita Stefanova, Alexander Pepler, Saskia Biskup, Anna Sandestig, Anja Holz, Per Odelberg-Johnsson, Ingela Danielsson, Karolina Engström
Publikováno v:
Molecular Syndromology. 10:313-319
There is no clearly established association between the gene NUP188 and human pathology. Only a few reports of patients with different clinical presentation and different heterozygous or compound heterozygous missense or splice region variants have b
Autor:
Benjamin Navet, Renee Perrier, Kiyotaka Tomiwa, Alexander Pepler, Hui Xi, Adele Schneider, Xiao Mao, Ryan J. Taft, Paul Rollier, Alban Ziegler, Roberto Colombo, Noriko Miyake, Emmanuel Scalais, Katrien Stouffs, Estelle Colin, Denise L. Perry, Adeline Vanderver, Nobuhiko Okamoto, Magalie Barth, Li Shu, Elizabeth Wohler, Louise Amlie-Wolf, Hainan Zhang, Alessandro Serretti, Naomichi Matsumoto, Dominique Bonneau, Hua Wang, Omar Sherbini, Alka Malhotra, Nara Sobreira, Alessandra Ferrarini
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2020-107137. ⟨10.1136/jmedgenet-2020-107137⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2020-107137. ⟨10.1136/jmedgenet-2020-107137⟩
ObjectiveTo determine the potential disease association between variants in LMBRD2 and complex multisystem neurological and developmental delay phenotypes.MethodsHere we describe a series of de novo missense variants in LMBRD2 in 10 unrelated individ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e8242650886f34b5e055c94a2bd396a
http://hdl.handle.net/11585/851070
http://hdl.handle.net/11585/851070
Autor:
Alka, Malhotra, Alban, Ziegler, Li, Shu, Renee, Perrier, Louise, Amlie-Wolf, Elizabeth, Wohler, Nara, Lygia de Macena Sobreira, Estelle, Colin, Adeline, Vanderver, Omar, Sherbini, Katrien, Stouffs, Emmanuel, Scalais, Alessandro, Serretti, Magalie, Barth, Benjamin, Navet, Paul, Rollier, Hui, Xi, Hua, Wang, Hainan, Zhang, Denise L, Perry, Alessandra, Ferrarini, Roberto, Colombo, Alexander, Pepler, Adele, Schneider, Kiyotaka, Tomiwa, Nobuhiko, Okamoto, Naomichi, Matsumoto, Noriko, Miyake, Ryan, Taft, Xiao, Mao, Dominique, Bonneau
Publikováno v:
Journal of medical genetics. 58(10)
To determine the potential disease association between variants inHere we describe a series of de novo missense variants inThese findings indicate that rare de novo variants in
Autor:
Saskia Biskup, Moritz Menzel, Rifat F. Abdi, Nouriya Al-Sannaa, Alexander Pepler, Sami Ibrahim Al-Majed, Hind Y. Al-Abdulwahed
Publikováno v:
Journal of Pediatric Neurology. 17:071-076
Webb–Dattani syndrome (WEDAS) is an autosomal recessive disorder caused by mutation in the ARNT2 gene characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency. The condition is reported
Autor:
Saskia Biskup, Anna Gréen, Alexander Pepler, Katarina Ellnebo, Johan Wahlström, Hartmut Vogt, Jon Jonasson, Anna Sandestig, Margarita Stefanova
Publikováno v:
Molecular Syndromology. 9:259-265
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Autor:
Katherine R. Nelson, Emilien Orgebin, Loic Geoffroy, Shawn R. Gilbert, Marie-Françoise O'Donohue, Antoine Hamel, Leonid Zeitlin, Stéphane Téletchéa, Annick Toutain, Richard Redon, Alexander Pepler, Benjamin Cogné, Stéphane Bézieau, Pierre Lindenbaum, Robel Tesfaye, Marc Baud'huin, Mathilde Nizon, Cédric Le Caignec, Christelle Retière, Lydie Da Costa, Manon Saby, Benoît de Courtivron, Yael Wilnai, Aliette Decock-Giraudaud, Benjamin Ory, Céline Charrier, Anna C.E. Hurst, Bertrand Isidor, Emmanuelle Mayrargue, Pierre-Emmanuel Gleizes, Kirsty McWalter, Francois Lamoureux, Olivier Pichon, Eitan Segev
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2019.09.024⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2019.09.024⟩
Am J Hum Genet
Variants in genes encoding ribosomal proteins have thus far been associated with Diamond-Blackfan anemia, a rare inherited bone marrow failure, and isolated congenital asplenia. Here, we report one de novo missense variant and three de novo splice va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::395f5a105ec7adf07a5937db715ea6dc
https://hal.archives-ouvertes.fr/hal-02327833
https://hal.archives-ouvertes.fr/hal-02327833
Autor:
Anna, Sandestig, Anna, Green, Jon, Jonasson, Hartmut, Vogt, Johan, Wahlström, Alexander, Pepler, Katarina, Ellnebo, Saskia, Biskup, Margarita, Stefanova
Publikováno v:
Molecular syndromology. 9(5)
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Autor:
Corina Heller, Bernd A. Neubauer, Andreas Hahn, Alexander Pepler, Michelle Grzybowski, Anne Schänzer
Publikováno v:
Neuropediatrics. 48(6)
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper