Lista de obras - Abdul Nasir - Dominio Público Uruguay

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

artículo científico publicado en 2021

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.

artículo científico publicado en 2017

A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

artículo científico publicado en 2018

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

artículo científico publicado en 2015

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

artículo científico publicado en 2017

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family

artículo científico publicado en 2017

A novel variant in <i>DMXL2</i> gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

artículo científico publicado en 2021

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2021

An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant

scientific article published on 28 June 2018

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

artículo científico publicado en 2020

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

artículo científico publicado en 2020

Clinical and genetic studies in patients with Lafora disease from Pakistan

artículo científico publicado en 2017

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

scientific article published in 2021

Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan"[J. Neurol. Sci. 373 (2017) 263-267].

artículo científico publicado en 2017

Engineering an aldehyde dehydrogenase toward its substrates, 3-hydroxypropanal and NAD+, for enhancing the production of 3-hydroxypropionic acid.

artículo científico publicado en 2017

Evaluation of Alpha-Amylase Inhibitory, Antioxidant, and Antimicrobial Potential and Phytochemical Contents of Polygonum hydropiper L

artículo científico publicado en 2020

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

artículo científico publicado en 2022

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

artículo científico publicado en 2015

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

scientific article published on 28 October 2019

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

artículo científico publicado en 2019

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

artículo científico publicado en 2016

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

artículo científico publicado en 2018

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in <i>BBS2</i> in a Kashmiri Family with Bardet-Biedl Syndrome

artículo científico publicado en 2021

In vitro differentiation effect of CCL4-induced liver injured mice serum on bone marrow-derived mesenchymal stem cells toward hepatocytes like cells

artículo científico publicado en 2020

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.

artículo científico publicado en 2017

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.

artículo científico publicado en 2016

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

artículo científico publicado en 2016

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum

artículo científico publicado en 2021

Potential Nutraceutical Benefits of In Vivo Grown Saffron (Crocus sativus L.) As Analgesic, Anti-inflammatory, Anticoagulant, and Antidepressant in Mice

artículo científico publicado en 2020

Synthesis of novel disulfide and sulfone hybrid scaffolds as potent β-glucuronidase inhibitor.

artículo científico publicado en 2016

Synthesis, molecular docking and α-glucosidase inhibition of 5-aryl-2-(6'-nitrobenzofuran-2'-yl)-1,3,4-oxadiazoles

artículo científico publicado en 2016

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families

artículo científico publicado en 2019

Lista de obras de Abdul Nasir

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.

A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family

A novel variant in <i>DMXL2</i> gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

Clinical and genetic studies in patients with Lafora disease from Pakistan

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan"[J. Neurol. Sci. 373 (2017) 263-267].

Engineering an aldehyde dehydrogenase toward its substrates, 3-hydroxypropanal and NAD+, for enhancing the production of 3-hydroxypropionic acid.

Evaluation of Alpha-Amylase Inhibitory, Antioxidant, and Antimicrobial Potential and Phytochemical Contents of Polygonum hydropiper L

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in <i>BBS2</i> in a Kashmiri Family with Bardet-Biedl Syndrome

In vitro differentiation effect of CCL4-induced liver injured mice serum on bone marrow-derived mesenchymal stem cells toward hepatocytes like cells

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum

Potential Nutraceutical Benefits of In Vivo Grown Saffron (Crocus sativus L.) As Analgesic, Anti-inflammatory, Anticoagulant, and Antidepressant in Mice

Synthesis of novel disulfide and sulfone hybrid scaffolds as potent β-glucuronidase inhibitor.

Synthesis, molecular docking and α-glucosidase inhibition of 5-aryl-2-(6'-nitrobenzofuran-2'-yl)-1,3,4-oxadiazoles

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families