Lista de obras - Sajid Malik - Dominio Público Uruguay

A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds

scientific article published on 14 January 2020

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

artículo científico publicado en 2003

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

scientific article published on 09 August 2019

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin

scientific article published on 01 April 2004

A simple method for characterising syndactyly in clinical practice

artículo científico publicado en 2005

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes

artículo científico publicado en 2010

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

artículo científico publicado en 2005

CONSANGUINITY AND INBREEDING COEFFICIENT IN TRIBAL PASHTUNS INHABITING THE TURBULENT AND WAR-AFFECTED TERRITORY OF BAJAUR AGENCY, NORTH-WEST PAKISTAN.

artículo científico publicado en 2016

Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

artículo científico publicado en 2013

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

artículo científico publicado en 2017

Congenital Limb Deficiency Associated with Intellectual Disability: Unusual Presentation in Two Subjects.

artículo científico publicado en 2016

Congenital constriction ring of limbs in subjects with history of maternal substance use.

artículo científico publicado en 2015

Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects

artículo científico publicado en 2014

Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

artículo científico publicado en 2013

Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family

scientific article published on 10 January 2008

Consanguinity and its socio-biological parameters in Rahim Yar Khan District, Southern Punjab, Pakistan

artículo científico publicado en 2016

Consanguinity and its sociodemographic differentials in Bhimber District, Azad Jammu and Kashmir, Pakistan

artículo científico publicado en 2014

Descriptive epidemiology of hereditary musculoskeletal and limb defects in the isolated population of Chitral, North-West Pakistan

artículo científico publicado en 2015

Determinants of Consanguinity and Inbreeding Coefficient F in Dir Lower District, North-West Pakistan: A Multivariate Approach

artículo científico publicado en 2016

Distribution and clinal trends of the ABO and Rh genes in select Middle Eastern countries

artículo científico publicado en 2015

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31

article

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

scientific article published on 30 May 2018

Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred

artículo científico publicado en 2007

Heterogeneity and diversity of ABO and Rh blood group genes in select Saudi Arabian populations.

artículo científico publicado en 2015

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly

artículo científico publicado en 2018

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles

artículo científico publicado en 2020

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

artículo científico publicado en 2017

Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers

artículo científico publicado en 2007

Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development

artículo científico publicado en 2010

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

artículo científico publicado en 2022

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

artículo científico publicado en 2018

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX.

artículo científico publicado en 2017

Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan

artículo científico publicado en 2015

Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene

artículo científico publicado en 2004

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type

artículo científico publicado en 2014

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms

artículo científico publicado en 2017

PATTERN OF CONSANGUINITY AND INBREEDING COEFFICIENT IN SARGODHA DISTRICT, PUNJAB, PAKISTAN.

artículo científico publicado en 2014

Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects

artículo científico publicado en 2016

Polydactyly: phenotypes, genetics and classification

artículo científico

Prevalence and pattern of traumatic limb amputations in female population of Bhimber District, Azad Jammu and Kashmir, Pakistan

artículo científico publicado en 2015

Prevalence of Congenital Anomalies and Non-Communicable Diseases in Women of Age 12-75 Years in District Bhimber, Azad Jammu and Kashmir, Pakistan.

artículo científico publicado en 2014

Prevalence of hepatitis C virus infection among thalassemia patients: a perspective from a multi-ethnic population of Pakistan.

artículo científico publicado en 2014

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain

artículo científico publicado en 2017

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Study of non-syndromic thumb aplasia in six independent cases.

artículo científico publicado en 2014

Syndactyly: phenotypes, genetics and current classification ⬇️

artículo científico publicado el 15 de febrero de 2012

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

artículo científico publicado en 2007

TRANSITION IN CONSANGUINITY IN DIR LOWER DISTRICT, A VICTIM OF WAR, NATURAL DISASTER AND POPULATION DISPLACEMENT, IN NORTH-WEST PAKISTAN - A RESPONSE TO STHANADAR ET AL. (2015).

artículo científico publicado en 2015

Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child

artículo científico publicado en 2013

Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression

artículo científico publicado en 2007

Lista de obras de Sajid Malik

A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin

A simple method for characterising syndactyly in clinical practice

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

CONSANGUINITY AND INBREEDING COEFFICIENT IN TRIBAL PASHTUNS INHABITING THE TURBULENT AND WAR-AFFECTED TERRITORY OF BAJAUR AGENCY, NORTH-WEST PAKISTAN.

Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

Congenital Limb Deficiency Associated with Intellectual Disability: Unusual Presentation in Two Subjects.

Congenital constriction ring of limbs in subjects with history of maternal substance use.

Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects

Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family

Consanguinity and its socio-biological parameters in Rahim Yar Khan District, Southern Punjab, Pakistan

Consanguinity and its sociodemographic differentials in Bhimber District, Azad Jammu and Kashmir, Pakistan

Descriptive epidemiology of hereditary musculoskeletal and limb defects in the isolated population of Chitral, North-West Pakistan

Determinants of Consanguinity and Inbreeding Coefficient F in Dir Lower District, North-West Pakistan: A Multivariate Approach

Distribution and clinal trends of the ABO and Rh genes in select Middle Eastern countries

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred

Heterogeneity and diversity of ABO and Rh blood group genes in select Saudi Arabian populations.

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers

Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX.

Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan

Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms

PATTERN OF CONSANGUINITY AND INBREEDING COEFFICIENT IN SARGODHA DISTRICT, PUNJAB, PAKISTAN.

Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects

Polydactyly: phenotypes, genetics and classification

Prevalence and pattern of traumatic limb amputations in female population of Bhimber District, Azad Jammu and Kashmir, Pakistan

Prevalence of Congenital Anomalies and Non-Communicable Diseases in Women of Age 12-75 Years in District Bhimber, Azad Jammu and Kashmir, Pakistan.

Prevalence of hepatitis C virus infection among thalassemia patients: a perspective from a multi-ethnic population of Pakistan.

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

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

Study of non-syndromic thumb aplasia in six independent cases.

Syndactyly: phenotypes, genetics and current classification ⬇️

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

TRANSITION IN CONSANGUINITY IN DIR LOWER DISTRICT, A VICTIM OF WAR, NATURAL DISASTER AND POPULATION DISPLACEMENT, IN NORTH-WEST PAKISTAN - A RESPONSE TO STHANADAR ET AL. (2015).

Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child

Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression