Lista de obras - Anna Rajab - Dominio Público Uruguay

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes

artículo científico publicado en 2009

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

artículo científico publicado en 2008

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

artículo científico publicado en 2007

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

artículo científico publicado en 2004

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

artículo científico publicado en 2006

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

artículo científico publicado en 2010

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

artículo científico publicado en 2006

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

scientific article published on 25 December 2018

Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman

artículo científico publicado en 2009

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

artículo científico publicado en 2015

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

artículo científico publicado en 2011

Developmental and degenerative features in a complicated spastic paraplegia.

artículo científico publicado en 2010

Dosage effect of zero to three functional LBR-genes in vivo and in vitro ⬇️

artículo científico publicado el 3 de enero de 2010

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

artículo científico publicado en 2011

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

artículo científico publicado en 2006

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman

scientific article published on 01 April 2005

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

artículo científico publicado en 2012

Extended molecular spectrum of beta- and alpha-thalassemia in Oman

artículo científico publicado en 2010

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

artículo científico publicado en 2010

Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics ⬇️

artículo científico publicado el 3 de julio de 2013

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

artículo científico publicado en 2008

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

artículo científico publicado en 2008

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

artículo científico publicado en 2002

High-throughput sequencing of microdissected chromosomal regions

artículo científico publicado en 2009

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

artículo científico publicado en 2011

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

artículo científico publicado en 2007

Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency

artículo científico publicado en 2003

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/ Adult Acute Lymphoblastic Leukemia in Omani Patients

artículo científico publicado en 2015

Incidence of chromosome abnormalities in the Sultanate of Oman

artículo científico publicado en 2005

Loss of PCLO function underlies pontocerebellar hypoplasia type III

artículo científico publicado en 2015

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

artículo científico publicado en 2004

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci

artículo científico publicado en 2002

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome

artículo científico publicado en 2013

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

artículo científico publicado en 2015

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

artículo científico publicado en 2016

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

artículo científico publicado en 2015

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

artículo científico publicado en 2008

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

scientific article published on 01 January 2010

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

artículo científico publicado en 2017

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

artículo científico publicado en 2015

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

artículo científico publicado en 2009

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

artículo científico publicado en 2020

Repository of mutations from Oman: The entry point to a national mutation database

artículo científico publicado en 2015

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

artículo científico publicado en 2013

Lista de obras de Anna Rajab

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Developmental and degenerative features in a complicated spastic paraplegia.

Dosage effect of zero to three functional LBR-genes in vivo and in vitro ⬇️

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Extended molecular spectrum of beta- and alpha-thalassemia in Oman

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics ⬇️

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

High-throughput sequencing of microdissected chromosomal regions

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/ Adult Acute Lymphoblastic Leukemia in Omani Patients

Incidence of chromosome abnormalities in the Sultanate of Oman

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome

Mutations in PYCR1 cause cutis laxa with progeroid features

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Repository of mutations from Oman: The entry point to a national mutation database

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.