Doris Taha
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Explore the profile of Doris Taha including associated specialties, affiliations and a list of published articles.
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22
Citations
471
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Recent Articles
1.
Taha D, Adhikari A, Flore L
J Pediatr Endocrinol Metab
. 2020 Nov;
34(2):267-271.
PMID: 33180037
Objectives: Activating germline mutations of the thyroid-stimulating hormone receptor (TSHR) are responsible for a rare form of neonatal nonautoimmune hyperthyroidism (NAH). We report the first case of familial neonatal neonatal...
2.
Thakur M, Taha D, Misra V
J Endocr Soc
. 2017 Dec;
1(4):278-282.
PMID: 29264484
Context: Genetic defects affecting the expression and function of factors involved in pituitary development have been found to be associated with congenital hypopituitarism (CH). However, for most cases of CH,...
3.
Dimitri P, De Franco E, Habeb A, Gurbuz F, Moussa K, Taha D, et al.
Am J Med Genet A
. 2016 May;
170(7):1918-23.
PMID: 27148679
Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate...
4.
J Malloy P, Tasic V, Taha D, Tutunculer F, Ying G, Yin L, et al.
Mol Genet Metab
. 2013 Nov;
111(1):33-40.
PMID: 24246681
Context: Hereditary vitamin D resistant rickets (HVDRR), also known as vitamin D-dependent rickets type II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary...
5.
Morimoto M, Yu Z, Stenzel P, Clewing J, Najafian B, Mayfield C, et al.
Orphanet J Rare Dis
. 2012 Sep;
7:70.
PMID: 22998683
Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1)....
6.
Hunter K, Lucke T, Spranger J, Smithson S, Alpay H, Andre J, et al.
Eur J Pediatr
. 2009 Dec;
169(7):801-11.
PMID: 20013129
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of...
7.
Taha D, Ahmed O, Sadiq B
Ann Saudi Med
. 2009 Aug;
29(5):357-60.
PMID: 19700892
Background And Objectives: We assessed the distribution of risk factors associated with the metabolic syndrome in a group of obese Saudi children and adolescents. No previous studies had addressed this...
8.
Taha D, Al-Harbi N, Al-Sabban E
J Pediatr Endocrinol Metab
. 2008 Aug;
21(6):581-6.
PMID: 18717244
Unlabelled: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by the combination of hepatorenal glycogen accumulation and Fanconi-type nephropathy. Mutations in GLUT2, the gene for facilitative glucose transporter...
9.
Taha D, Bardise J, Hegab A, Bonnefond A, Marchand M, Drunat S, et al.
Pediatr Diabetes
. 2008 Jun;
9(3 Pt 1):240-4.
PMID: 18547237
Pancreatic agenesis is a rare cause of neonatal diabetes mellitus (NDM). It can be associated with malformations of the heart, the biliary tract, and the cerebellum. We report an infant...
10.
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth
Taha D, Khider A, Cullinane A, Gissen P
Am J Med Genet A
. 2007 Nov;
143A(23):2835-7.
PMID: 17994566
No abstract available.