Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Vani Jain"'
Publikováno v:
Radiology Case Reports, Vol 16, Iss 8, Pp 2240-2243 (2021)
Acromesomelic dysplasia, type Maroteaux is caused by variants in NPR2. It is a severe chondrodysplasia resulting in shortening of the middle and distal segments of the limbs. Limb length at birth may be normal but decreased growth becomes obvious in
Externí odkaz:
https://doaj.org/article/65c173ed7af14c5c85eee70c07896d8a
Autor:
Mohit Tiwari, Ticku, Amrita, Shouryya Veer Monga, Vani Jain, Ritik Kumar Chaudhary, Vaijayanthi Sambath Kumar
As a result of the expansion of the internet of things and linked devices, professionals in the field of cyber security are facing a significant number of challenges in the modern digital world. The professionals need any and all support that is at t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a34c4db844940358923708f59ac01fed
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
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
Autor:
Gabriela Jones, Cheryl Stopford, Elisabeth Rosser, Katrina Merrifield, Henrietta Lefroy, Nicola S. Cooper, Lauren M Cairns, Sarah Buston, Andrew G L Douglas, Asma Hamad, Andrea H. Németh, Simon Holden, Julia Rankin, Vani Jain, Megan Rogers
Publikováno v:
Journal of Medical Genetics. 59:544-548
IntroductionMotor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype and variants of uncertain
Publikováno v:
InnovAiT: Education and inspiration for general practice. 13:365-373
Dementia is a collective term for a range of conditions that lead to a progressive deterioration in cognitive function. Together they are a major cause of disability, and it is estimated that 10 000 000 new cases are diagnosed every year, worldwide.
Publikováno v:
INTERNATIONAL JOURNAL OF MANAGEMENT. 11
Autor:
Amy McTague, Siddharth Srivastava, Tamison Jewett, Ali Al-Beshri, Constance Smith-Hicks, Shelagh Joss, Jennifer A. Sullivan, Sarju G. Mehta, Koenraad Devriendt, Pascal Joset, Laurence Faivre, Emma Kivuva, William G. Wilson, Gunnar Houge, Naama Orenstein, Yana Hoorne, Vickie L. Hannig, Malou Heijligers, Bart Loeys, Vandana Shashi, Katrina Prescott, Iris Verbinnen, Annick Toutain, Lauren M. Baldwin, Stephen P. Fulton, Katharina Steindl, Anne Marie Childs, Anna Chassevent, Shelley Towner, Cornelia Daumer-Haas, Oded Wechsberg, Alison Male, Hannah F. Johnson, Wendy K. Chung, Anita Rauch, Anna Ruiz, Isabelle Maystadt, Sara Reynhout, Sébastien Moutton, Yvette van Ierland, Veerle Janssens, Frédéric Laumonnier, Martina Baethmann, Lisa Lenaerts, Vani Jain, Vinod Varghese, Suzanne M. Koudijs, Elisabeth Gabau, Frédérique Bonnet-Brilhault, Rizwan Hamid, Susan E. Holder, Barbara Plecko
Publikováno v:
Genetics in Medicine, 23(2), 352-362. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1563bdcdf43463d5995297a78f9c2f2
https://ddd.uab.cat/record/238621
https://ddd.uab.cat/record/238621
Autor:
Annie M. Procter, Vani Jain
Publikováno v:
eLS
It is generally well recognised and accepted that opportunities exist to test individuals for genetic disorders; however, the application of such genetic testing during childhood is subject to controversy and debate. The views of the child, parent an
Publikováno v:
Clinical Kidney Journal
Genetic causes of steroid-resistant nephrotic syndrome are being increasingly recognized. Mutations in NPHS2, which encodes the glomerular protein podocin, account for up to 17% of sporadic and 40% of familial cases, where they display an autosomal-r
Autor:
Sébastien Schmitt, Amélie Piton, Christian P. Schaaf, Xenia Latypova, Brigitte Gilbert-Dussardier, Jill A. Rosenfeld, Kozo Tanaka, Robert Roger Lebel, Sylvie Odent, Haley Streff, Bertrand Isidor, Philippe Parent, Audrey Donnart, Sébastien Küry, Pierre Lindenbaum, Estelle Colin, Nodoka Chida, Masanori Ikeda, Marie Vincent, Alex Henderson, Thomas Besnard, Christian Dina, Dominique Bonneau, Eric Charpentier, Sally J. Davies, Yaping Yang, Anne Sophie Denommé, Benjamin Cogné, Stéphane Bézieau, Vani Jain, Richard Redon, Cédric Le Caignec, Sandra Mercier, Shelagh Joss, Annick Toutain, Kenji Iemura
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Human Mutation, Wiley, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
International audience; A rare syndromic form of intellectual disability with impaired speech was recently found associated with mutations in CHAMP1 (chromosome alignment-maintaining phosphoprotein 1), the protein product of which is directly involve