List of works - Marie-Line Jacquemont

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations

scientific article published on 15 May 2007

A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A

scientific article published on 23 February 2011

A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens

scientific article published on 01 August 2004

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

scientific article published on 06 March 2019

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

scientific article published on 25 March 2013

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation

article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

scientific article

Finger creases lend a hand in Kabuki syndrome.

scientific article

Growth charts in Kabuki syndrome 1

scientific article published on 26 December 2019

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

scientific article published on 03 May 2020

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

scientific article published on 04 November 2018

High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island

scientific article published on 30 January 2020

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

scientific article published on 31 March 2021

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

scientific article published on 31 July 2019

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management

scientific article published on 01 February 2010

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

scientific article published on 01 July 2008

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

scientific article published on 12 January 2018

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter

article

Severe Snoring in a Child with Pycnodysostosis Treated with a Bilateral Rib Graft

scientific article published on 28 February 2008

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

scientific article published on 2 December 2015

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

scientific article published on 16 February 2018

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

scientific article published on 8 November 2013

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance

scientific article

List of works by Marie-Line Jacquemont

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations

A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A

A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Correction: The landscape of epilepsy-related GATOR1 variants

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

Finger creases lend a hand in Kabuki syndrome.

Growth charts in Kabuki syndrome 1

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management

New insights into genotype-phenotype correlation for GLI3 mutations

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter

Severe Snoring in a Child with Pycnodysostosis Treated with a Bilateral Rib Graft

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

The landscape of epilepsy-related GATOR1 variants

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance