Lista de obras - Marc Abramowicz - Dominio Público Uruguay

A familial form of primary pulmonary arterial hypertension

artículo científico publicado el 1 de noviembre de 1997

A familial heterozygous null mutation of MET in autism spectrum disorder

artículo científico publicado en 2014

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome ⬇️

artículo científico publicado el 18 de julio de 2011

Autosomal recessive primary microcephaly due to ASPM mutations: An update

artículo científico publicado en 2017

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

artículo científico publicado en 2007

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

artículo científico publicado en 2021

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

artículo científico publicado en 2008

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

artículo científico publicado en 2020

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

artículo científico publicado en 2012

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

artículo científico publicado en 2019

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

artículo científico publicado en 2015

Experience with 1251 transcervical chorionic villus samplings performed in the first trimester by a single team of operators ⬇️

artículo científico publicado el 1 de mayo de 1995

Functional study of the human thyroid peroxidase gene promoter ⬇️

artículo científico publicado el 1 de febrero de 1992

Gene therapy, a new arsenal at hand

artículo científico publicado el 1 de enero de 1992

Global implementation of genomic medicine: We are not alone

artículo científico publicado en 2015

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

artículo científico publicado en 2017

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

Higher degree of chromosome mosaicism in preimplantation embryos from carriers of robertsonian translocation t(13;14) in comparison with embryos from karyotypically normal IVF patients ⬇️

artículo científico publicado el 1 de febrero de 2003

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter ⬇️

artículo científico publicado el 1 de octubre de 1992

Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness

artículo científico publicado en 2019

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

artículo científico publicado en 2022

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

artículo científico publicado en 2021

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

artículo científico publicado en 2012

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

artículo científico publicado en 2010

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses

artículo científico publicado en 2018

Microcephaly risk with RUSC2.

artículo científico publicado en 2016

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

artículo científico publicado en 2007

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn

artículo científico publicado en 2010

Novel mutations in prenatal diagnosis of primary microcephaly

scientific article published on 01 October 2006

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

scientific article published on 26 March 2019

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data

artículo científico publicado en 2006

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

scientific article published on 01 June 2008

Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation ⬇️

artículo científico publicado el 1 de septiembre de 2003

Probing the Cause of Thyroid Dysgenesis ⬇️

artículo científico publicado el 1 de junio de 1997

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

artículo científico publicado en 2013

Severe congenital microcephaly with AP4M1 mutation, a case report

artículo científico publicado en 2017

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the sameCOL2A1mutation

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

artículo científico publicado en 2012

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)

artículo científico publicado el 1 de septiembre de 2011

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

artículo científico publicado en 2020

Tumour-like presentation of pulmonary sarcoidosis ⬇️

artículo científico publicado el 1 de noviembre de 1992

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

[Genetics of hearing disorders in children]

artículo científico publicado en 2019

[Intellectual disability: contribution of genetic studies to the etiological diagnosis]

scientific article published on 01 September 2018

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans

artículo científico publicado en 2013

Lista de obras de Marc Abramowicz

A familial form of primary pulmonary arterial hypertension

A familial heterozygous null mutation of MET in autism spectrum disorder

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome ⬇️

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

Experience with 1251 transcervical chorionic villus samplings performed in the first trimester by a single team of operators ⬇️

Functional study of the human thyroid peroxidase gene promoter ⬇️

Gene therapy, a new arsenal at hand

Global implementation of genomic medicine: We are not alone

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

Higher degree of chromosome mosaicism in preimplantation embryos from carriers of robertsonian translocation t(13;14) in comparison with embryos from karyotypically normal IVF patients ⬇️

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter ⬇️

Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses

Microcephaly risk with RUSC2.

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn

Novel mutations in prenatal diagnosis of primary microcephaly

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation ⬇️

Probing the Cause of Thyroid Dysgenesis ⬇️

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

Severe congenital microcephaly with AP4M1 mutation, a case report

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the sameCOL2A1mutation

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

Tumour-like presentation of pulmonary sarcoidosis ⬇️

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

[Genetics of hearing disorders in children]

[Intellectual disability: contribution of genetic studies to the etiological diagnosis]

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans