Lista de obras - Ariana Kariminejad - Dominio Público Uruguay

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote

scientific article published on 29 February 2020

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

artículo científico publicado en 2017

A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.

artículo científico publicado en 2013

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

scientific article published on 01 December 2018

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.

artículo científico publicado en 2015

Absent pulmonary valve, intact interventricular septum, rudimentary aortic non-coronary cusp and ascending aortic aneurysm in a single patient

scientific article published on 29 January 2010

Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis

artículo científico publicado en 2017

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability

artículo científico publicado en 2012

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a variant

artículo científico publicado en 2018

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

artículo científico publicado en 2016

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.

artículo científico publicado en 2017

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

artículo científico publicado en 2018

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"

scientific article published on 11 July 2019

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

scientific article published on 01 October 2019

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia

artículo científico publicado en 2016

Characterizing a cohort of α-thalassemia couples collected during screening for hemoglobinopathies: 14 years of an Iranian experience

scientific article published on 01 January 2014

Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases

artículo científico publicado en 2019

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

artículo científico publicado en 2017

Complete COL1A1 allele deletions in osteogenesis imperfecta

artículo científico publicado en 2010

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

artículo científico publicado en 2017

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

artículo científico publicado en 2017

Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report

artículo científico publicado en 2010

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

artículo científico publicado en 2018

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

artículo científico publicado en 2020

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

scientific article published on 21 November 2019

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient

artículo científico publicado en 2019

Homozygous variants in the gene SCAPER cause syndromic intellectual disability

artículo científico publicado en 2019

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

artículo científico publicado en 2019

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

artículo científico publicado en 2016

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

artículo científico publicado en 2015

Juvenile nephronophthisis and dysthyroidism: a rare association

artículo científico publicado en 2017

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

artículo científico publicado en 2016

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

artículo científico publicado en 2018

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

artículo científico publicado en 2016

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

artículo científico publicado en 2014

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

artículo científico publicado en 2017

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

scientific article published on 18 November 2018

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

scientific article published on 03 August 2018

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

artículo científico publicado en 2015

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

article

Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3

artículo científico publicado en 2014

Osteogenesis Imperfecta: A Review with Clinical Examples.

artículo científico publicado en 2011

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

artículo científico publicado en 2011

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.

artículo científico publicado en 2016

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

artículo científico publicado en 2017

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

artículo científico publicado en 2015

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

artículo científico publicado en 2016

Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.

artículo científico publicado en 2009

SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion

artículo científico publicado en 2012

SZT2 mutation in a boy with intellectual disability, seizures and autistic features

artículo científico publicado en 2018

Severe Cenani-Lenz syndrome caused by loss of LRP4 function

artículo científico publicado en 2013

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.

artículo científico publicado en 2014

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

artículo científico publicado en 2017

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

artículo científico publicado en 2016

Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran

artículo científico publicado en 2015

Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.

artículo científico publicado en 2016

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants

scientific article published on 11 June 2019

Lista de obras de Ariana Kariminejad

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.

Absent pulmonary valve, intact interventricular septum, rudimentary aortic non-coronary cusp and ascending aortic aneurysm in a single patient

Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a variant

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia

Characterizing a cohort of α-thalassemia couples collected during screening for hemoglobinopathies: 14 years of an Iranian experience

Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Complete COL1A1 allele deletions in osteogenesis imperfecta

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient

Homozygous variants in the gene SCAPER cause syndromic intellectual disability

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Juvenile nephronophthisis and dysthyroidism: a rare association

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3

Osteogenesis Imperfecta: A Review with Clinical Examples.

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.

SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion

SZT2 mutation in a boy with intellectual disability, seizures and autistic features

Severe Cenani-Lenz syndrome caused by loss of LRP4 function

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran

Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants