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Ramesh Reddy
Ramesh Reddy
Email confirmado em ugent.be
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An idiopathic epilepsy syndrome linked to 3q13. 3‐q21 and missense mutations in the extracellular calcium sensing receptor gene
A Kapoor, P Satishchandra, R Ratnapriya, R Reddy, J Kadandale, ...
Annals of Neurology: Official Journal of the American Neurological …, 2008
842008
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7
R Reddy, E Akoury, NM Phuong Nguyen, OA Abdul-Rahman, C Dery, ...
European Journal of Human Genetics 21 (9), 957-964, 2013
762013
Causative mutations and mechanism of androgenetic hydatidiform moles
NMP Nguyen, ZJ Ge, R Reddy, S Fahiminiya, P Sauthier, R Bagga, ...
The American Journal of Human Genetics 103 (5), 740-751, 2018
742018
Phylogeography of mtDNA haplogroup R7 in the Indian peninsula
G Chaubey, M Karmin, E Metspalu, M Metspalu, D Selvi-Rani, VK Singh, ...
BMC Evolutionary Biology 8, 1-12, 2008
712008
A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21. 3-q22. 3
R Ratnapriya, P Satishchandra, SD Kumar, G Gadre, R Reddy, A Anand
Human genetics 125, 541-549, 2009
542009
Comprehensive genotype–phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation
NMP Nguyen, L Zhang, R Reddy, C Déry, J Arseneau, A Cheung, U Surti, ...
Journal of Medical Genetics 51 (9), 623-634, 2014
362014
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
R Reddy, NMP Nguyen, G Sarrabay, M Rezaei, MCG Rivas, A Kavasoglu, ...
European Journal of Human Genetics 24 (10), 1445-1452, 2016
282016
Strontium fails to induce Ca2+ release and activation in human oocytes despite the presence of functional TRPV3 channels
Y Lu, R Reddy, M Ferrer Buitrago, M Vander Jeught, J Neupane, ...
Human Reproduction Open 2018 (3), hoy005, 2018
252018
Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants
M Tang, RR Guggilla, Y Gansemans, M Van der Jeught, A Boel, ...
Molecular Human Reproduction 25 (12), 797-810, 2019
212019
Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing
R Reddy, S Fahiminiya, E El Zir, A Mansour, A Megarbane, J Majewski, ...
PloS one 9 (9), e107326, 2014
192014
Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either “partial” or “complete” hydatidiform moles
L Brown, S Mount, R Reddy, R Slim, C Wong, V Jobanputra, P Clifford, ...
International Journal of Gynecological Pathology 32 (4), 399-405, 2013
182013
Comparative analysis of mouse and human preimplantation development following POU5F1 CRISPR/Cas9 targeting reveals interspecies differences
P Stamatiadis, A Boel, G Cosemans, M Popovic, B Bekaert, R Guggilla, ...
Human Reproduction 36 (5), 1242-1252, 2021
142021
Unraveling the causes of failed fertilization after intracytoplasmic sperm injection due to oocyte activation deficiency
D Bonte, RR Guggilla, P Stamatiadis, P De Sutter, B Heindryckx
Reproductomics, 243-277, 2018
92018
Digital polymerase chain reaction for assessment of mutant mitochondrial carry-over after nuclear transfer for in vitro fertilization
O Tytgat, MX Tang, W van Snippenberg, A Boel, RR Guggilla, ...
Clinical Chemistry 67 (7), 968-976, 2021
52021
Associations with Single Rare Heterozygous NLRP7 Variants for Chinese Patients with Sporadic Gestational Trophoblastic Diseases
P Zhang, X Yu, J Ying, R Reddy, J Shi, X Zhu, Y Ding, Q Cheng, W Zhao, ...
2020
A proof-of-concept study to investigate DNA repair mechanisms in the human embryo after the application of CRISPR/Cas9 gene editing in the germ line
B Bekaert, A Boel, L De Witte, M Popovic, RR Guggilla, S Mishra, ...
21th BeSHG meeting: Reproductive Genetics, 2020
2020
RET Genotype & MEN2 Phenotype correlation in a large Indian Medullary Thyroid Carcinoma (MTC) cohort & influence of SNPs in 3 genetic pathways on MTC behavior
V Mishra, P Kowtal, R Reddy, N Mahida, R Sarin
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 447-448, 2019
2019
The use of pronuclear transfer to overcome infertility disorders in mice
B Heindryckx, A Boel, P Stamatiadis, M Van der Jeught, RR Guggilla, ...
35th Annual Meeting of the European-Society-of-Human-Reproduction-and …, 2019
2019
Mitochondrial DNA sequence variation in Sugali tribe of Andhra Pradesh
RR Guggilla
Centre for cellular and molecular biology, 2005
2005
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