Detalhe da pesquisa
1.
Exploring the clinical utility of exome sequencing/Mono, Duo, Trio in prenatal testing: a retrospective study in a tertiary care centre in South India.
J Perinat Med
; 52(5): 520-529, 2024 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38709224
2.
Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy.
Blood Cells Mol Dis
; 99: 102727, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36725474
3.
Corrigendum to "Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy" [Blood Cells Mol. Dis. 99 (2023) 102727].
Blood Cells Mol Dis
; 101: 102744, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37095038
4.
Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.
J Clin Pathol
; 74(3): 157-162, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32605921
5.
Genetic modifiers of secondary iron overload in beta thalassemia major.
Blood Cells Mol Dis
; 54(3): 242-3, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25601433
6.
Association of growth differentiation factor 15 (GDF15) polymorphisms with serum GDF15 and ferritin levels in ß-thalassemia.
Ann Hematol
; 93(12): 2093-5, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24867648
7.
Restrictive Dermopathy Due to ZMPSTE24 Mutation: A Case Report with a Novel Finding of Corpus Callosum Agenesis.
Indian J Dermatol
; 69(1): 95-97, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38572040
8.
Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications.
Br J Haematol
; 163(3): 404-7, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23888904
9.
Molecular basis of primary iron overload in India and the role of serum-derived factors in hepcidin regulation.
Ann Hematol
; 92(6): 843-4, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23154866
10.
Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families.
J Cyst Fibros
; 20(5): e84-e86, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33883099
11.
Association of genetic variants with response to iron supplements in pregnancy.
Genes Nutr
; 10(4): 474, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26024779
12.
A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia.
Br J Haematol
; 147(5): 766-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19747362