Lista de obras - Sulman Basit - Dominio Público Uruguay

A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families

artículo científico publicado en 2014

A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations

artículo científico publicado en 2020

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles

artículo científico publicado en 2009

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 new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

artículo científico publicado en 2011

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

artículo científico publicado en 2012

A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1.

artículo científico publicado en 2012

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family

artículo científico publicado en 2011

A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development

artículo científico publicado en 2020

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation

artículo científico publicado en 2011

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

artículo científico publicado en 2017

A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

artículo científico publicado en 2015

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

artículo científico publicado en 2008

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 splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.

artículo científico publicado en 2011

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.

artículo científico publicado en 2016

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

artículo científico publicado en 2012

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

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

scientific article published on 11 May 2019

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly

artículo científico publicado en 2016

Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome

scientific article published on 07 January 2020

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

artículo científico publicado en 2011

Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review

artículo científico publicado en 2016

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

artículo científico publicado en 2011

Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women

artículo científico publicado en 2024

Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.

artículo científico publicado en 2017

Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

artículo científico publicado en 2019

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

artículo científico publicado en 2017

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia

artículo científico publicado en 2016

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

artículo científico publicado en 2015

First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.

artículo científico publicado en 2017

First macrocyclic 3rd-generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib.

artículo científico publicado en 2017

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

artículo científico publicado en 2021

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

scientific article published in 2021

Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

scientific article published on 24 December 2019

Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis

artículo científico publicado en 2015

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes

artículo científico publicado en 2010

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes

artículo científico publicado en 2011

Genetics of clubfoot; recent progress and future perspectives

artículo científico publicado en 2017

Genetics of human isolated acromesomelic dysplasia.

artículo científico publicado en 2016

Genetics of human isolated hereditary hair loss disorders

artículo científico publicado en 2014

Genetics of human isolated hereditary nail disorders

artículo científico

High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families

artículo científico publicado en 2016

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

artículo científico publicado en 2010

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families

scientific article published on 05 November 2015

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

artículo científico publicado en 2024

KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption

scientific article published on 11 November 2019

Linkage analysis coupled with exome sequencing identified defects in gene ‘X’ causing premature ovarian insufficiency.

artículo científico publicado en 2014

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

artículo científico publicado en 2011

Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29

artículo científico publicado en 2010

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

artículo científico publicado en 2009

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

artículo científico publicado en 2013

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

artículo científico publicado en 2011

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan

artículo científico publicado en 2011

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families

artículo científico publicado en 2009

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

artículo científico publicado en 2012

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families

scientific article published on 23 May 2018

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

artículo científico publicado en 2011

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

artículo científico publicado en 2019

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome

artículo científico publicado en 2012

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 missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2018

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

article

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

artículo científico publicado en 2017

Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome

scientific article published on 01 January 2012

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

artículo científico publicado en 2015

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia

artículo científico publicado en 2009

Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1

artículo científico publicado en 2016

Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients

artículo científico publicado en 2018

Vitamin D in health and disease: a literature review.

artículo científico publicado en 2013

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.

artículo científico publicado en 2017

Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2.

artículo científico

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II

artículo científico publicado en 2019

Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2.

artículo científico publicado en 2015

Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene

artículo científico publicado en 2019

XPC Gene Mutations in Families with Xeroderma Pigmentosum from Pakistan; Prevalent Founder Effect.

artículo científico publicado en 2018

Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males

artículo científico publicado en 2015

Lista de obras de Sulman Basit

A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families

A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles

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

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1.

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family

A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

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

A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

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

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly

Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women

Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.

Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.

First macrocyclic 3rd-generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib.

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes

Genetics of clubfoot; recent progress and future perspectives

Genetics of human isolated acromesomelic dysplasia.

Genetics of human isolated hereditary hair loss disorders

Genetics of human isolated hereditary nail disorders

High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption

Linkage analysis coupled with exome sequencing identified defects in gene ‘X’ causing premature ovarian insufficiency.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome

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

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia

Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1

Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients

Vitamin D in health and disease: a literature review.

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.

Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2.

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II

Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2.

Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene

XPC Gene Mutations in Families with Xeroderma Pigmentosum from Pakistan; Prevalent Founder Effect.

Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males