Amale Ichkou

Paris, France

Last Updated: 09/26/2026

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Found 10 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

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Journal: Birth defects research

Published: July 11, 2017

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Journal: American journal of medical genetics. Part A

Published: April 25, 2017

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

MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY.

MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY.

Journal: Genetic counseling (Geneva, Switzerland)

Published: September 10, 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 novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

Journal: Clinical dysmorphology

Published: February 26, 2015

New insights into genotype-phenotype correlation for GLI3 mutations.

New insights into genotype-phenotype correlation for GLI3 mutations.

Journal: European journal of human genetics : EJHG

Published: October 27, 2013

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

Journal: Journal of medical genetics

Published: November 06, 2012

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

Journal: Journal of medical genetics

Published: October 02, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026