Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Yves Sznajer"'
Publikováno v:
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syn
Externí odkaz:
https://doaj.org/article/b879edc6c4ec4c589997c2eac7ba02ed
Autor:
Alice Costantini, Jessica J. Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N. Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J. Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outi Mäkitie
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100647- (2020)
Externí odkaz:
https://doaj.org/article/82391d474b4843248d0f88dd26afa5d1
Autor:
Colmant Caroline, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
Publikováno v:
Dermatology Practical & Conceptual, Vol 8, Iss 1 (2018)
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acr
Externí odkaz:
https://doaj.org/article/b3109e52724f49668c5c3125e73dddd1
Autor:
Leonor Palmeira, Lore Lannoo, Anne De Leener, Eva Sammels, Julie Désir, Nathalie Brison, Guillaume Smits, Vincent Bours, Annelies Dheedene, Annelies Fieuw, Kris Van Den Bogaert, Marjan De Rademaeker, Elise Vantroys, Jean-Stéphane Gatot, Laura Bourlard, Vincent Gatinois, Colombine Meunier, Koenraad Devriendt, Armelle Duquenne, François Boemer, Bettina Blaumeiser, Axel Marichal, Katrien Janssens, Joris Vermeesch, Nathalie Fieremans, Bruno Pichon, Yves Sznajer, Björn Menten, Sandra Janssens, Bernard Grisart, Machteld Baetens, Damien Lederer
Publikováno v:
Genetics in medicine
Genetics in medicine, Vol. 23, no.6, p. 1137-1142 (2021)
Genetics in medicine, Vol. 23, no.6, p. 1137-1142 (2021)
Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting
Publikováno v:
European journal of medical genetics.
Poretti-Boltshauser syndrome (PTBHS) is an autosomal recessive disorder characterized by cerebellar dysplasia with cysts and an abnormal shape of the fourth ventricle on neuroimaging, due to pathogenic variants in the LAMA1 gene. The clinical spectru
Autor:
Outi Mäkitie, Gen Nishimura, Yves Sznajer, Valérie Cormier-Daire, Francesca Tonelli, Tuomas Näreoja, Yong Uk Kwon, Anh Nhi Tran, Valentina Daponte, Ok Hwa Kim, Helena Valta, Tae Joon Cho, Alan J. Warren, Jung Yun Bae, Antonella Forlino, Alice Costantini, Nadi Kirova, Jessica J. Alm, Woo Yeong Chung, Shengjiang Tan, Céline Huber
Publikováno v:
Journal of Bone and Mineral Research
Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)
Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)
Spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of disorders with variable growth failure and skeletal impairments affecting the spine and long bone epiphyses and metaphyses. Here we report on four unrelated families with SEMD in
Autor:
Sahar Mansour, Sarah F. Smithson, Gillian Rea, Anna Zachariou, Philip J. Ostrowski, Edward Blair, Alison Foster, Sofia Douzgou, Katrina Tatton-Brown, Trevor Cole, Chey Loveday, Elizabeth Thompson, Swati Naik, Diana Baralle, Katherine Lachlan, Michael Field, Claire Kyle, Yves Sznajer
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:638-643
BRWD3 has been described as a cause of X-linked intellectual disability, but relatively little is known about the specific phenotype. We report the largest BRWD3 patient series to date, comprising 17 males with 12 distinct null variants and two parti
Publikováno v:
Maternal-Fetal Medicine, Vol. 4, no.2, p. 152-154 (2021)
no abstract available
Publikováno v:
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Clinical Case Reports
Clinical Case Reports
Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syndrome.