Výsledky vyhledávání - "Sophia Tahir"

Akademický článek

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Autor: Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain

Publikováno v: JCRPE, Vol 13, Iss 1, Pp 34-43 (2021)

Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuro

Externí odkaz: https://doaj.org/article/98ad2c4ca25547f1b7b9db3e4bc101ad

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Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Autor: Khalid Hussain, Meliha Demiral, Edip Unal, Dogus Vuralli, Riza Taner Baran, Mehmet Nuri Ozbek, Ayşe Nurcan Cebeci, Gonul Buyukyilmaz, Sophia Tahir, Maha Sherif, Atilla Cayir, Busra Cavdarli, Huseyin Demirbilek, Sofia A. Rahman

Publikováno v: JCRPE, Vol 13, Iss 1, Pp 34-43 (2021)

Objective Bi-allelic mutations in wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized with non-autoimmune diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), sensorineural deafness (SND), urinary tract abnor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::477d4ab5b43f019b971acbd57cc9b71e
https://doaj.org/article/98ad2c4ca25547f1b7b9db3e4bc101ad

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A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency

Autor: Maria Vittoria Corridori, Roberto Oleari, Valentina Andre, Ludovica Cotellessa, Carles Gaston-Massuet, Anna Cariboni, Hellmut G. Augustin, Khalid Hussain, Lise Roth, Sophia Tahir, Valeria Scagliotti, Lisa Benedetta De Martini, Ivano Eberini, Simona Gulli, Antonella Lettieri, Chiara Parravicini, Francesco Bedogni, Alyssa Paganoni

Publikováno v: Neuroendocrinology. 111:421-441

Introduction: Gonadotropin-releasing hormone (GnRH) deficiency causes hypogonadotropic hypogonadism (HH), a rare genetic disorder that impairs sexual reproduction. HH can be due to defective GnRH-secreting neuron development or function and may be as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8e685f3245edc175c9262dc190af1d1
https://doi.org/10.1159/000508375

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Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I

Autor: Huseyin Demirbilek, Sibel Tanriverdi, Mehmet Nuri Ozbek, Riza Taner Baran, Khalid Hussain, Sophia Tahir

Publikováno v: Hormone research in paediatrics. 85(5)

Background and Aims: Vitamin D-dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-hydroxyvitamin D 1-alpha-hydroxylase gene (CYP27B1). Mutations in CYP27B1 disrupt or lead to a total loss of the 1-α-hyd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c67d4ec7eb5fb43cedfd360a421d1eb
https://pubmed.ncbi.nlm.nih.gov/26982175

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A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome

Autor: Khalid Hussain, Sophia Tahir, Atilla Cayir, Maha Sherif, Caley Laxer, Huseyin Demirbilek, Sofia Rahman

Publikováno v: Journal of pediatric endocrinologymetabolism : JPEM. 29(5)

Background Alstrom syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alstrom syndrome 1 (ALMS1) gene l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c9f231af145752835734f535950c5f0
https://pubmed.ncbi.nlm.nih.gov/26910739

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A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Autor: Lieve Gj Leijssen, Maha Sherif, Khalid Hussain, Anabela Morais, Sophia Tahir, Carla Pereira

Publikováno v: International Journal of Pediatric Endocrinology

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da3d52e5edecdb77c13815761b6994fc
http://europepmc.org/articles/PMC4397709

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Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia

Autor: Khalid Hussain, Riza Taner Baran, Pratik Shah, Maha Sherif, Mehmet Nuri Ozbek, Sophia Tahir, Ved Bhushan Arya, Ahmet Baran, Huseyin Demirbilek, Nebahat Hatipoglu

Publikováno v: The Journal of clinical endocrinology and metabolism. 99(12)

Mutations in the growth hormone releasing hormone receptor (GHRHR) gene are a relatively rare cause of isolated growth hormone deficiency (IGHD).This study aimed to understand the biochemical basis of hypoglycemia in the index case and the molecular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3141ba6e1f33ed43808b2e8f38789662
https://pubmed.ncbi.nlm.nih.gov/25226297

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Akademický článek

Fanconi Bickel Syndrome with hypercalciuria due to GLUT 2 mutation.

Autor: Rao, Sudha, Shah, Ruchi, Parikh, Ruchi, Sophia, Tahir, Khalid, Hussain

Publikováno v: Indian Pediatrics; Sep2016, Vol. 53 Issue 9, p829-830, 2p

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