Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Gaurav V. Harlalka"'
Autor:
Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting f
Externí odkaz:
https://doaj.org/article/8ddc9109fec74dd780fb8658772b15c8
Autor:
Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad, Asma Gul
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)
Abstract Background Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden. Methods We investigated
Externí odkaz:
https://doaj.org/article/6bcad50c52f9412a80b170614d58f361
Autor:
Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka, Asma Gul
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 genes have been report
Externí odkaz:
https://doaj.org/article/ac52dc582e684f3ca5d6d071c0838356
Autor:
Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
Abstract Background Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate extensive genetic an
Externí odkaz:
https://doaj.org/article/603d71cf367240d19f8d75f82bd166e2
Autor:
Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Emma L Baple
Publikováno v:
PLoS Genetics, Vol 18, Iss 3, p e1010114 (2022)
The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component of the TRAPP II complex,
Externí odkaz:
https://doaj.org/article/5c426a88bf9249aa9daecb2e85ea53bb
Publikováno v:
Pakistan Journal of Medical Research, Vol 60, Iss 2 (2021)
Background: Fragile XE (FRAXE) is an X-linked recessive condition that affects 1 in 50,000 of new born males with intellectual disability (ID). It is characterized by mild Intellectual disability (ID), speech delay cognitive impairment, and in some c
Externí odkaz:
https://doaj.org/article/00db3f978905459a8538f5761ac1fced
Autor:
Shazia Khan, Muhammad Umair, Safdar Abbas, Uroba Ali, Gohar Zaman, Muhammad Ansar, Rongrong Wang, Xue Zhang, Henry Houlden, Gaurav V. Harlalka, Asma Gul
Publikováno v:
The Journal of Gene Medicine.
Autor:
Muhammad Ikram Ullah, Tahir N. Khan, Maimoona Siddiqui, Gaurav V. Harlalka, Erica E. Davis, Talia Akram, Zaineb Akram, Chunyu Liu, Muhammad Jameel, Arsalan Ahmad, Kamal Khan, Sarmad Mehmood, Barry A. Chioza, Muhammad Jawad Hassan, Humayoon Shafique Satti, Raees Khan, Emma A. Baple, Andrew H. Crosby, Shahid Mahmood Baig, Belqees Yawar Faiz, Feng Zhang
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(2)
Autosomal recessive limb-girdle muscular dystrophy-1 (LGMDR1) is an autosomal recessive disorder characterized by progressive weakness of the proximal limb and girdle muscles. Biallelic mutations in CAPN3 are reported frequently to cause LGMDR1. Here
Autor:
Andrew H. Crosby, Emma L. Baple, Chloe Payne, Asma Gul, Claire Prince, Abida Akbar, Gaurav V. Harlalka, Wasim Ahmad, James Fasham
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Medical Genetics
BMC Medical Genetics
Background Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 genes have been reported to be
Autor:
Anthony G. Robson, Claire G. Salter, James Fasham, Gaurav V. Harlalka, Olivia Wenger, Amelia Lane, F. Lucy Raymond, Sarah Hull, Rui Chen, Emma L. Baple, Lynn Schema, Gavin Arno, Mingchu Xu, Anthony T. Moore, Andrew R. Webster, Siying Lin, Michael E. Cheetham, Timothy J. Moss, Keren J. Carss, Jay E. Self, Andrew H. Crosby
Publikováno v:
American Journal of Medical Genetics. Part a
Author(s): Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J; Hull, Sarah; Lane, Amelia; Robson, Anthony G; Wenger, Olivia; Self, Jay E; Harlalka, Gaurav V; Salter, Claire G; Schema, Lynn; Moss, Timothy J; Cheetham, Michael E; Moor