List of works - Marc Abramowicz

A familial form of primary pulmonary arterial hypertension

scientific article published on 01 November 1997

A familial heterozygous null mutation of MET in autism spectrum disorder

scientific article (publication date: October 2014)

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

scientific article published on July 18, 2011

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

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

scientific article

Chimeraplasty validation ⬇️

scientific article published on 01 November 2001

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

scientific article published on 04 September 2021

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

scientific article

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

scientific article published on 01 April 2020

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

scientific article

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

scientific article published on 07 November 2019

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

scientific article published on 4 February 2015

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

scientific article published on 01 May 1995

Functional study of the human thyroid peroxidase gene promoter ⬇️

scientific article published on February 1, 1992

Gene therapy, a new arsenal at hand

scientific article published on January 1, 1992

Genetic aspects of colorectal cancer

scientific article published on 01 September 2001

Global implementation of genomic medicine: We are not alone

scientific article

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

scientific article published on 12 October 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 ⬇️

scientific article published on February 1, 2003

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

scientific article published on October 1, 1992

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

scientific article published on 01 April 2019

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

scientific article published in 2022

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

scientific article published on 30 November 2021

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

scientific article

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

scientific article (publication date: July 2010)

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

scientific article published on 01 January 2018

Microcephaly risk with RUSC2.

scientific article published on 28 September 2016

Multiple and de novo aneurysms in Ehlers-Danlos syndrome

scientific article published on 01 January 1997

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

scientific article

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

scientific article published in January 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

Place and role of genetic counseling

scientific article published on 01 September 2001

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

scientific article

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 ⬇️

scientific article published on September 1, 2003

Probing the Cause of Thyroid Dysgenesis ⬇️

scientific article published on 01 June 1997

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

scientific article published on 10 October 2013

Severe congenital microcephaly with AP4M1 mutation, a case report

scientific article

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.

scientific article

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

scientific article published on September 1, 2011

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

scientific article published on 18 November 2020

Tumour-like presentation of pulmonary sarcoidosis ⬇️

scientific article published on November 1, 1992

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

[Genetics of hearing disorders in children]

scientific article published on 01 October 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

scientific article

List of works by 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

Chimeraplasty validation ⬇️

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

Genetic aspects of colorectal cancer

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.

Multiple and de novo aneurysms in Ehlers-Danlos syndrome

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

Place and role of genetic counseling

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