Nadia Elkhartoufi

Paris, France

Last Updated: 09/26/2026

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Found 17 publications

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.

Journal: Acta neuropathologica communications

Published: December 17, 2022

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

Journal: Clinical genetics

Published: April 12, 2021

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Journal: Clinical genetics

Published: May 05, 2020

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Journal: American journal of medical genetics. Part A

Published: July 31, 2017

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Journal: European journal of medical genetics

Published: June 30, 2017

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.

Journal: Birth defects research

Published: June 18, 2017

HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL

HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL

Journal: Harefuah

Published: January 09, 2016

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

Journal: Birth defects research. Part A, Clinical and molecular teratology

Published: December 15, 2015

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Journal: PLoS genetics

Published: August 04, 2015

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Journal: The Journal of cell biology

Published: April 15, 2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Journal: American journal of human genetics

Published: March 13, 2015

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.

Journal: Journal of medical case reports

Published: December 18, 2014

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Last Updated: 09/26/2026