Zobrazeno 1 - 10
of 161
pro vyhledávání: '"Meena, Balasubramanian"'
Publikováno v:
Journal of Cleft Lip Palate and Craniofacial Anomalies, Vol 9, Iss 1, Pp 85-87 (2022)
Orofacial clefts are common birth defects and Van der Woude syndrome (VWS) is the most common form of orofacial cleft syndrome, accounting for approximately 2% of patients with a cleft.[1],[2] The cardinal features of VWS are lower lip pits associate
Externí odkaz:
https://doaj.org/article/b64be836ae0c49bca5f3fe10350717cf
Autor:
Saraswathy Sabanathan, Deepti Gulhane, Kshitij Mankad, James Davison, Min Tsui Ong, Rahul Phadke, Robert Robinson, Michael Spiller, Emma Wakeling, Sithara Ramdas, Angela F Brady, Meena Balasubramanian, Pinki Munot
Publikováno v:
Neuromuscular Disorders. 33:50-57
Individuals with biallelic TBCK pathogenic variants present in infancy with distinctive facial features, profound hypotonia, severe intellectual impairment and epilepsy. Although rare, it may mimic other neurogenetic disorders leading to extensive in
Publikováno v:
Clinical Dysmorphology. 32:43-47
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background With increased access to genetic testing, variants of uncertain significance (VUS) where pathogenicity is uncertain are being increasingly identified. More than 85% Osteogenesis Imperfecta (OI) patients have pathogenic variants in
Externí odkaz:
https://doaj.org/article/392f4e1d546f4ee3b85a5ddc6a3868b8
Autor:
Meena Balasubramanian, Rebecca Jones, Elizabeth Milne, Charlotte Marshall, Paul Arundel, Kath Smith, Nicholas J. Bishop
Publikováno v:
Bone Reports, Vol 8, Iss , Pp 156-162 (2018)
Objectives: Osteogenesis Imperfecta (OI) is a heterogeneous condition mainly characterised by bone fragility; intelligence is reported to be normal. However, a minority of children seen also show symptomology consistent with an ‘Autism Spectrum Dis
Externí odkaz:
https://doaj.org/article/89e8da6c712b4da79d0915d58dc343d8
Autor:
Emily Woods, Imogen Marson, Emanuele Coci, Michael Spiller, Ajith Kumar, Angela Brady, Tessa Homfray, Richard Fisher, Peter Turnpenny, Julia Rankin, Farah Kanani, Konrad Platzer, Athina Ververi, Eleftheria Emmanouilidou, Nourxan Bourboun, George Giannakoulas, Meena Balasubramanian
Publikováno v:
American Journal of Medical Genetics Part A. 188:3331-3342
Autor:
Meena Balasubramanian, Sunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, Deirdre Donnelly, Damien Lederer, Sally Lynch, Alice Gardham, Jenny Morton, Helen Stewart, France Docquier, Fay Rodger, Jose Martin, Ana Toribio, Eamonn Maher
HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and dysregulation of HNRNPU have been implicated in various human diseases, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cbc420a00983464ec6688ae27eca5deb
https://doi.org/10.21203/rs.3.rs-2653174/v1
https://doi.org/10.21203/rs.3.rs-2653174/v1
Autor:
James Taylor, Michael Spiller, Kara Ranguin, Antonio Vitobello, Christophe Philippe, Ange‐Line Bruel, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Marjolaine Willems, Bertrand Isidor, Kristen Park, Meena Balasubramanian
Publikováno v:
American Journal of Medical Genetics Part A. 188:1497-1514
Pathogenic variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) results in a novel neurodevelopmental disorder recently delineated. Here, we report on 17 previously unpublished patients carrying HNRNPU pathogenic variants. All patients were
Autor:
Anna Middleton, Nicola Taverner, Catherine Houghton, Sarah Smithson, Meena Balasubramanian, Frances Elmslie
This document is written on behalf of the two professional bodies in the United Kingdom that represent genetic counsellors (the Association of Genetic Nurses and Counsellors) and clinical geneticists (the Clinical Genetics Society) and aims to suppor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f555558df37f3987d32c094a156ffbc
https://www.repository.cam.ac.uk/handle/1810/345110
https://www.repository.cam.ac.uk/handle/1810/345110
Publikováno v:
American Journal of Medical Genetics Part A. 188:931-940
We describe clinical details, including novel findings, of two further children with the newly defined TLK2-related disorder. One patient was recruited to the Deciphering Developmental Delay (DDD) Study to identify underlying etiology of global devel