Michel Goossens

Creteil, France

Last Updated: 09/26/2026

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Found 19 publications

Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders.

Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders.

Journal: Molecular psychiatry

Published: August 19, 2020

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

Journal: Molecular genetics & genomic medicine

Published: August 11, 2020

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.

Journal: European heart journal

Published: July 31, 2015

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.

Journal: European journal of medical genetics

Published: February 20, 2015

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

Journal: European journal of medical genetics

Published: January 16, 2015

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.

Journal: Molecular cytogenetics

Published: October 20, 2014

Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.

Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.

Journal: International journal of laboratory hematology

Published: June 19, 2014

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Journal: Human molecular genetics

Published: April 10, 2014

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.

Journal: Molecular cytogenetics

Published: December 10, 2013

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

Journal: European journal of medical genetics

Published: May 24, 2013

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

Journal: Human molecular genetics

Published: March 08, 2013

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

Journal: Human molecular genetics

Published: February 22, 2013

Showing 1-12 of 19

Last Updated: 09/26/2026