Shahab Noorian
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View article: Isolated Growth Hormone Deficiency <scp>IA</scp> due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1–4 of <scp>GH1</scp> Gene: A Case Report
Isolated Growth Hormone Deficiency <span>IA</span> due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1–4 of <span>GH1</span> Gene: A Case Report Open
Isolated growth hormone deficiency (IGHD) IA is inherited autosomal recessively and occurs due to GH1 gene deletions. This study emphasizes the importance of clinical diagnosis and molecular examination for detecting novel mutations to pre…
View article: An Iranian Adolescent with Disorders of Sex Development: A Case Report of 46,XX Male Disorder and Literature Review
An Iranian Adolescent with Disorders of Sex Development: A Case Report of 46,XX Male Disorder and Literature Review Open
View article: Associated factors to insulin adherence in type 1 diabetes in Tehran and Karaj, Iran
Associated factors to insulin adherence in type 1 diabetes in Tehran and Karaj, Iran Open
View article: Familial hypercholesterolemia in an Iranian family due to a mutation in the APOE gene (first case report)
Familial hypercholesterolemia in an Iranian family due to a mutation in the APOE gene (first case report) Open
View article: The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation
The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation Open
Introduction: Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked recessive intellectual disability condition with neuromuscular involvements. Altered thyroid function tests are major milestones in AHDS diagnosis. However, due to pheno…
View article: COVID-19 and Diabetic Ketoacidosis in a Child: A Case Report
COVID-19 and Diabetic Ketoacidosis in a Child: A Case Report Open
Since the World Health Organization (WHO) announced the severe acute respiratory syndrome coronavirus 2 pandemic, different cases with various diseases have been reported along with the coronavirus disease 2019 (COVID-19). Although COVID-1…
View article: The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation
The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation Open
Introduction: Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked recessive intellectual disability condition with neuromuscular involvements. Altered thyroid function tests are major milestones in AHDS diagnosis. However, due to pheno…
View article: A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review
A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review Open
To date, approximately 28 ANOS1 mutations producing KS phenotypes have been described. However, to the best of our knowledge, this particular X-linked recessive mutation has not been previously reported in KS. Furthermore, ptosis is…
View article: Late infantile form of multiple sulfatase deficiency
Late infantile form of multiple sulfatase deficiency Open
Summary Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder (LSD) that results in the accumulation of sulfate esters which go on to cause neurological deterioration and mental delay, skin changes, and dysmorphism. The disea…
View article: Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth
Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth Open
Idiopathic short stature (ISS) is a common diagnosis of exclusion in patients with short stature (SS). In this article, we aimed to identify the genetic causes of SS in patients with ISS and investigate treatment options. Fourteen children…
View article: Whole Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth
Whole Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth Open
Introduction Evaluation of short stature is a challenge for pediatricians and in the process, idiopathic short stature (ISS) is an often diagnosis of exclusion. Non-pathogenetic mutations affecting height may present with phenotypes simila…
View article: Whole Exome Sequencing in Idiopathic Short Stature: rare mutations affecting growth
Whole Exome Sequencing in Idiopathic Short Stature: rare mutations affecting growth Open
Introduction: one of the most common causes of referrals to paediatricians is short stature (ISS), some pathogenic mutations may present exactly similar to non-pathogenic causes, our goal is to identify and treat these patients labelled IS…
View article: Dizygotic Twins Concordant for Down Syndrome: Implication for Establishing a National Birth Defect Registry in Iran.
Dizygotic Twins Concordant for Down Syndrome: Implication for Establishing a National Birth Defect Registry in Iran. Open
Dizygotic Twins Concordant for Down Syndrome: Implication for Establishing a National Birth Defect Registry in Iran