Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Neeti Ghali"'
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction:AEBP1-related classical-like EDS (clEDS type 2) is a rare type of Ehlers–Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB-related classical-like EDS (or clEDS type 1), including s
Externí odkaz:
https://doaj.org/article/51ae329f66a74afcb8581a586a61f38c
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an increased risk of arterial dissection and hollow organ rupture. In women with
Externí odkaz:
https://doaj.org/article/8922f6b73a6e4d4cb15efe4b4f54ca5c
Autor:
Chloe Angwin, Angela F. Brady, Marina Colombi, David J. P. Ferguson, Rebecca Pollitt, F. Michael Pope, Marco Ritelli, Sofie Symoens, Neeti Ghali, Fleur S. van Dijk
Publikováno v:
Genes, Vol 10, Iss 10, p 762 (2019)
Two probands are reported with pathogenic and likely pathogenic COL5A1 variants (frameshift and splice site) in whom no collagen flowers have been identified with transmission electron microscopy (TEM). One proband fulfils the clinical criteria for c
Externí odkaz:
https://doaj.org/article/71d3d57925b04e0abb34c5555dee610a
Autor:
Juliette Harris, Marion Bartlett, Duncan Baker, Cheryl Berlin, Jessica Bowen, Carole Cummings, Christina Fallows, Claire Green, Jared Griffin, Kay Julier, Tammy Kammin, Ravinder Sehra, Clare Stacey, Jan Cobben, Neeti Ghali, Diana Johnson, Glenda Sobey, Fleur S van Dijk
Publikováno v:
J Community Genet
With genomic testing being increasingly integrated into every day clinical practice and a wide range of practitioners ordering genetic tests, it is important that the scope of the genetic counselling role continues to evolve alongside these changes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b7b931c8d83c150b287b1a364262a60
https://europepmc.org/articles/PMC10104978/
https://europepmc.org/articles/PMC10104978/
Autor:
Albert E. Chudley, Dirk E. Schrander, Constance T. R. M. Stumpel, Colin A. Johnson, Neeti Ghali, Alistair Calder, Heleen M. Staal
Publikováno v:
Journal of Pediatric Genetics, 11(01), 51-58. Georg Thieme Verlag
J Pediatr Genet
J Pediatr Genet
The combination of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS, OMIM: 602471) has been reported as an ultra-rare, autosomal-recessive developmental disorder with unique skeletal anomalies. To the pre
Autor:
Alistair T. Pagnamenta, Jing Yu, Tracey A. Willis, Mona Hashim, Eleanor G. Seaby, Susan Walker, Jiaqi Xian, Emily W. Y. Cheng, Ana Lisa Taylor Tavares, Francesca Forzano, Helen Cox, Tabib Dabir, Angela F. Brady, Neeti Ghali, Santosh S. Atanur, Sarah Ennis, Diana Baralle, Jenny C. Taylor
Publikováno v:
Human Mutation.
SRRM2 encodes a splicing factor recently implicated in developmental disorders due to a statistical enrichment of de novo mutations. Using data from the 100,000 Genomes Project, four unrelated individuals with intellectual disability (ID) were identi
Autor:
Siren Berland, Andreas Benneche, Andrew E. Fry, Kate Chandler, Julie Paulsen, Marie Falkenberg Smeland, Nicola Foulds, Neeti Ghali, Katrina Prescott, Jenny Carmichael, Vani Jain, Kay Metcalfe, Oliver Murch, Emma Hobson
Publikováno v:
Eur J Hum Genet
White–Sutton syndrome (WHSUS) is a neurodevelopmental disorder caused by heterozygous loss-of-function variants in POGZ. Through the Deciphering Developmental Disorders study and clinical testing, we identified 12 individuals from 10 families with
Autor:
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian
Publikováno v:
Neurology, 99(14), E1511-E1526. LIPPINCOTT WILLIAMS & WILKINS
Background and ObjectivesATP1A3 is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyond the initially defined phenotypes of alternating hemiplegia of childhood, rapid-onset dystonia parkinsonism, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23883a196d3c5ae16dc2de06f170846
https://hdl.handle.net/1887/3562155
https://hdl.handle.net/1887/3562155
Autor:
Glenda Sobey, Elizabeth Oakley-Hannibal, Ulrike Lepperdinger, Johannes Zschocke, Diana Johnson, Angela F. Brady, Ines Kapferer-Seebacher, Fleur S van Dijk, Neeti Ghali
Publikováno v:
Genetics in Medicine. 23:316-322
Purpose We report prospective clinical investigations of children affected with periodontal Ehlers-Danlos syndrome (pEDS). The main clinical features of pEDS in adults are early severe periodontitis, generalized lack of attached gingiva, and pretibia
Autor:
Rhoda Akilapa, Hanadi Kazkaz, Marion Bartlett, Glenda Sobey, Harveer Cheema, Fleur S van Dijk, Neeti Ghali, Vivienne McConnell, Jessica Bowen, Angela F. Brady, Renarta Crookes, Joanna Brock, Anthony Vandersteen, F Michael Pope, Chloe Angwin, Claire Green, Diana Johnson, Duncan Baker, Erin Chamberlain
Publikováno v:
Genetics in Medicine. 22:1576-1582
Purpose Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to