Phenotypic Expression of Genetic Cardiomyopathy in Indian Patients Undergoing Cardiac MRI

Autor: Mary Varunya Jehendran, MD, Amaresh Kumar, MD, Krishna Kartik, MD, Hariprasad Shetty, MD, Aniruddha Diliprao Patil, MD, Suraj Gowda, MD, Richa Kothari, MD, Siddaramappa J Patil, MD, Aditi Singhvi, MD, Vimal Raj, MD

Publikováno v: Journal of Cardiovascular Magnetic Resonance, Vol 26, Iss , Pp 100364- (2024)

Externí odkaz: https://doaj.org/article/1a0cb4c7ea44407d9a0e63b7e26b7f05

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

Autor: Yatheesha Bl, Ali Kumble, Michelle C. do Rosario, Anupriya Kaur, Leslie Lewis, Rajagopal Kadavigere, Ratna Dua Puri, K Shreedhara Avabratha, Sunita Bijarnia Mahay, Girish Subramaniam, Suvasini Sharma, K C Rakshith, Siddaramappa J. Patil, Sheela Nampoothiri, Mahesh Kamate, Shrikiran A, Hitesh Shah, Rajesh Shetty, Katta M. Girisha, Nutan Kamath, Anju Shukla, Shruti Bajaj, Stephanie L. Bielas, Narayanaswami Suresh, Malavika Hebbar, Shivanand Pai, Mamta N. Muranjan, Parneet Kaur, Ramesh Bhat Y, Rathika D. Shenoy, Neethukrishna Kausthubham, Karthik Nair

Publikováno v: Clin Genet

Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic test

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e1afded30e8ac2d9ad5e9b01fc140f
https://doi.org/10.1111/cge.14037

Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene

Autor: Kaustubh Mohite, Karthik Vijay Nair, Anilkumar Sapare, Venkatraman Bhat, Anju Shukla, Minal Kekatpure, Siddaramappa J. Patil

Publikováno v: Indian Journal of Pediatrics

Biotinidase deficiency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b68ebcdb31c97012bcccde3255a764c1
https://doi.org/10.1007/s12098-021-04000-3

Bosley–Salih–Alorainy syndrome in patients from India

Autor: G A Karthik, Gandham SriLakshmi Bhavani, Jhanvi Shah, Siddaramappa J. Patil, Katta M. Girisha, Venkatraman Bhat, Jyoti Matalia, Anju Shukla

Publikováno v: American Journal of Medical Genetics Part A. 182:2699-2703

Bi-allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley-Salih-Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome, mainly reported in two different populations from Saudi Arabia and southwest North

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4662b981ce2001cf5d2513d5dc744814
https://doi.org/10.1002/ajmg.a.61809

Turner syndrome in diverse populations

Autor: Joanna Y.L. Tung, Katta M. Girisha, Paul Kruszka, Nicole Fleischer, Engy A. Ashaat, E.V. Badoe, Dalia Farouk Hussen, Neer Shoba Chitrakar, Angélica Moresco, Neveen A. Ashaat, Olufemi Fasanmade, Siddaramappa J. Patil, Mona O. El Ruby, André Mégarbané, Johnathan Watts, Karen Fieggen, Gary T. K. Mok, Dhanya Yesodharan, Milagros M. Dueñas-Roque, Ezana Lulseged, Cedrik Tekendo-Ngongang, Sarah Savage, Saumya Shekhar Jamuar, Vajira H. W. Dissanayake, Nirmala D. Sirisena, Sultana M.H. Faradz, Antonio Richieri-Costa, Kelly L. Jones, Jasmine Chew Yin Goh, Brenda C. Iriele, María Beatriz de Herreros, Brian H.Y. Chung, Godfrey Mutashambara Rwegerera, María Gabriela Obregon, Yonit A. Addissie, Nydia Rena Benita Sihombing, Teresa Aravena, Shubha R. Phadke, Victoria Huckstadt, C. Sampath Paththinige, Meow-Keong Thong, Neerja Gupta, Agustini Utari, Sheela Nampoothiri, Elizabeth Eberechi Oyenusi, Ekanem N. Ekure, Maximilian Muenke, Rupesh Mishra, Oluwarotimi Bolaji Olopade, Annette Uwineza, Vorasuk Shotelersuk, Ambroise Wonkam

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Am J Med Genet A

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. TS presents with short stature, infertility secondary to ovarian dysgenesis, cardiac and renal anomalies, cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf516dfd88789c7ce7186e90a9e30000