List of works - Lionel Van Maldergem

A Postural Tremor Highly Responsive to Transcranial Cerebello-Cerebral DCS in ARCA3.

scientific article published on 03 March 2017

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

scientific article published on 19 August 2008

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

scientific article published on 21 September 2016

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

scientific article

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

scientific article published on 22 May 2015

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

scientific article

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

scientific article

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

scientific article published on 28 February 2019

Exome sequencing in Brown-Vialetto-van Laere syndrome

scientific article

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

scientific article

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

scientific article published on May 2009

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

scientific article

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

scientific article published on February 2009

Hearing loss and deafness in the pediatric population: causes, diagnosis, and rehabilitation

scientific article published on January 2013

Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up

scientific article published on August 2003

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

scientific article

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

scientific article (publication date: September 2002)

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

scientific article

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

scientific article

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

scientific article

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

scientific article published on 24 April 2013

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

scientific article published on 25 March 2009

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

scientific article

Morphological spectrum and clinical features of myopathies with tubular aggregates

scientific article

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

scientific article

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

scientific article

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Phenotypic and molecular insights into CASK-related disorders in males

scientific article published on 12 April 2015

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

scientific article published on 18 April 2013

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

scientific article published on 2 January 2013

Prevalence of mutations in AGPAT2 among human lipodystrophies

scientific article

RAD21 mutations cause a human cohesinopathy

scientific article

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

scientific article

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

scientific article (publication date: August 2002)

The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

scientific article

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

scientific article

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

scientific article published on 18 September 2014

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

scientific article published on 3 May 2016

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance ⬇️

scientific article published on April 4, 2012

List of works by Lionel Van Maldergem

A Postural Tremor Highly Responsive to Transcranial Cerebello-Cerebral DCS in ARCA3.

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Exome sequencing in Brown-Vialetto-van Laere syndrome

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

GJB2 mutations and degree of hearing loss: a multicenter study

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

Hearing loss and deafness in the pediatric population: causes, diagnosis, and rehabilitation

Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

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

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

Morphological spectrum and clinical features of myopathies with tubular aggregates

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

Mutations in PYCR1 cause cutis laxa with progeroid features

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

New insights into genotype-phenotype correlation for GLI3 mutations

Phenotypic and molecular insights into CASK-related disorders in males

Phenotypic expansion in - a common cause of intellectual disability in females

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

Prevalence of mutations in AGPAT2 among human lipodystrophies

RAD21 mutations cause a human cohesinopathy

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance ⬇️