Syndromes Malformatifs | List of Frontiers open access articles

Original Research

Published on 08 Apr 2019

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

in Developmental Physiology

Ivan K. Popov
Susan M. Hiatt
Sandra Whalen
Boris Keren
Claudia Ruivenkamp
Arie van Haeringen
Mei-Jan Chen
Gregory M. Cooper
Bruce R. Korf
Chenbei Chang

Frontiers in Physiology

doi 10.3389/fphys.2019.00388

10,091 views
37 citations

Case Report

Published on 30 Apr 2019

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

in Pediatric Endocrinology

Eloïse Giabicani
Sandra Chantot-Bastaraud
Adeline Bonnard
Myriam Rachid
Sandra Whalen
Irène Netchine
Frédéric Brioude

Frontiers in Endocrinology

doi 10.3389/fendo.2019.00263

4,626 views
13 citations

Original Research

Published on 28 Feb 2022

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

in Cell Death and Survival

Deepa S. Rajan
Sukhleen Kour
Tyler R. Fortuna
Margot A. Cousin
Sarah S. Barnett
Zhiyv Niu
Dusica Babovic-Vuksanovic
Eric W. Klee
Brian Kirmse
Micheil Innes

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2022.783762

7,589 views
18 citations

Original Research

Published on 05 Feb 2024

Actions to prevent and identify fetal alcohol spectrum disorders to be implemented in general practice: a consensus

in Family Medicine and Primary Care

Sébastien Leruste
Alice Pouilley-Bax
Bérénice Doray
Thierry Maillard
Frédérick Monin
Coralie Loubaresse
Catherine Marimoutou
Michel Spodenkiewicz

Frontiers in Medicine

doi 10.3389/fmed.2024.1278973

3,019 views

Original Research

Published on 29 Feb 2024

Obstacles and facilitators to preventing fetal alcohol spectrum disorder: a qualitative study with general practitioners

in Family Medicine and Primary Care

Sébastien Leruste
François Baelen
Bérénice Doray
Thierry Maillard
Catherine Marimoutou
Michel Spodenkiewicz

Frontiers in Medicine

doi 10.3389/fmed.2024.1280349

2,248 views

Original Research

Published on 20 Apr 2023

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

in Genetics of Common and Rare Diseases

Frédéric Tran Mau-Them
Alexis Overs
Ange-Line Bruel
Romain Duquet
Mylene Thareau
Anne-Sophie Denommé-Pichon
Antonio Vitobello
Arthur Sorlin
Hana Safraou
Sophie Nambot

Frontiers in Genetics

doi 10.3389/fgene.2023.1122985

3,024 views
1 citation

Articles

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

Actions to prevent and identify fetal alcohol spectrum disorders to be implemented in general practice: a consensus

Obstacles and facilitators to preventing fetal alcohol spectrum disorder: a qualitative study with general practitioners

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis