Concepción Hernández-Chico

Affiliations
  • Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.

Publications (4)

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Human mutation
Avec: Magdalena Koczkowska , Tom Callens , Yunjia Chen , Alicia Gomes , Alesha D Hicks , Angela Sharp , Eric Johns , Kim Armfield Uhas , Linlea Armstrong , Katherine Armstrong Bosanko , Dusica Babovic-Vuksanovic , Laura Baker , Donald G Basel , Mario Bengala , James T Bennett , Chelsea Chambers , Lola K Clarkson , Maurizio Clementi , Fanny M Cortés , Mitch Cunningham , M Daniela D'Agostino , Martin B Delatycki , Maria C Digilio , Laura Dosa , Silvia Esposito , Stephanie Fox , Mary-Louise Freckmann , Christine Fauth , Teresa Giugliano , Sandra Giustini , Allison Goetsch , Yael Goldberg , Robert S Greenwood , Cristin Griffis , Karen W Gripp , Punita Gupta , Eric Haan , Rachel K Hachen , Tamara L Haygarth , Concepción Hernández-Chico , Katelyn Hodge , Robert J Hopkin , Louanne Hudgins , Sandra Janssens , Kory Keller , Geraldine Kelly-Mancuso , Aaina Kochhar , Bruce R Korf , Andrea M Lewis , Jan Liebelt , Angie Lichty , Robert H Listernick , Michael J Lyons , Isabelle Maystadt , Mayra Martinez Ojeda , Carey McDougall , Lesley K McGregor , Daniela Melis , Nancy Mendelsohn , Malgorzata J M Nowaczyk , June Ortenberg , Karin Panzer , John G Pappas , Mary Ella Pierpont , Giulio Piluso , Valentina Pinna , Eniko K Pivnick , Dinel A Pond , Cynthia M Powell , Caleb Rogers , Noa Ruhrman Shahar , S Lane Rutledge , Veronica Saletti , Sarah A Sandaradura , Claudia Santoro , Ulrich A Schatz , Allison Schreiber , Daryl A Scott , Elizabeth A Sellars , Ruth Sheffer , Elizabeth Siqveland , John M Slopis , Rosemarie Smith , Alberto Spalice , David W Stockton , Haley Streff , Amy Theos , Gail E Tomlinson , Grace Tran , Pamela L Trapane , Eva Trevisson , Nicole J Ullrich , Jenneke Van den Ende , Samantha A Schrier Vergano , Stephanie E Wallace , Michael F Wangler , David D Weaver , Kaleb H Yohay , Elaine Zackai , Jonathan Zonana , Vickie Zurcher , Kathleen B M Claes , Marica Eoli , Yolanda Martin , Katharina Wimmer , Alessandro De Luca , Eric Legius , Ludwine M Messiaen

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genetics in medicine : official journal of the American College of Medical Genetics

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genetics in medicine : official journal of the American College of Medical Genetics

Réseau de co-auteurs

Yolanda Martin 4 collaborations
Magdalena Koczkowska 3 collaborations
Tom Callens 3 collaborations
Yunjia Chen 3 collaborations
Alicia Gomes 3 collaborations
Alesha D Hicks 3 collaborations
Angela Sharp 3 collaborations
Donald G Basel 3 collaborations
Maria C Digilio 3 collaborations
Laura Dosa 3 collaborations
Robert S Greenwood 3 collaborations
Cristin Griffis 3 collaborations
Punita Gupta 3 collaborations
Rachel K Hachen 3 collaborations
Sandra Janssens 3 collaborations
Bruce R Korf 3 collaborations
Andrea M Lewis 3 collaborations
Robert H Listernick 3 collaborations
Mayra Martinez Ojeda 3 collaborations
Carey McDougall 3 collaborations
Nancy Mendelsohn 3 collaborations
Mary Ella Pierpont 3 collaborations
Dinel A Pond 3 collaborations
S Lane Rutledge 3 collaborations
Veronica Saletti 3 collaborations
Daryl A Scott 3 collaborations
Elizabeth Siqveland 3 collaborations
Pamela L Trapane 3 collaborations
Nicole J Ullrich 3 collaborations
Michael F Wangler 3 collaborations
Elaine Zackai 3 collaborations
Kathleen B M Claes 3 collaborations
Katharina Wimmer 3 collaborations
Alessandro De Luca 3 collaborations
Eric Legius 3 collaborations
Ludwine M Messiaen 3 collaborations
Arthur S Aylsworth 2 collaborations
Amedeo A Azizi 2 collaborations
Gary Bellus 2 collaborations
Lynne M Bird 2 collaborations
Maria A Blazo 2 collaborations
Leah W Burke 2 collaborations
Ashley Cannon 2 collaborations
Felicity Collins 2 collaborations
Colette DeFilippo 2 collaborations
Ellen Denayer 2 collaborations
Shelley K Dills 2 collaborations
Kristi J Jones 2 collaborations
Justin T Jordan 2 collaborations
Peter Kannu 2 collaborations
Fortunato Lonardo 2 collaborations
Maurice J Mahoney 2 collaborations
Marie T McDonald 2 collaborations
David T Miller 2 collaborations
Mari Mori 2 collaborations
Rianne Oostenbrink 2 collaborations
Sebastién Perreault 2 collaborations
Carmelo Piscopo 2 collaborations
Linda M Randolph 2 collaborations
Katherine A Rauen 2 collaborations
Surya Rednam 2 collaborations
G Bradley Schaefer 2 collaborations
Elizabeth K Schorry 2 collaborations
Andrea Shugar 2 collaborations
Lois J Starr 2 collaborations
Ashraf Syed 2 collaborations
Emily G Wakefield 2 collaborations
Laurence E Walsh 2 collaborations
Rick van Minkelen 2 collaborations
Eric Johns 1 collaboration
Kim Armfield Uhas 1 collaboration
Linlea Armstrong 1 collaboration
Laura Baker 1 collaboration
Mario Bengala 1 collaboration
James T Bennett 1 collaboration
Chelsea Chambers 1 collaboration
Lola K Clarkson 1 collaboration
Maurizio Clementi 1 collaboration
Fanny M Cortés 1 collaboration
Mitch Cunningham 1 collaboration
M Daniela D'Agostino 1 collaboration
Martin B Delatycki 1 collaboration
Silvia Esposito 1 collaboration
Stephanie Fox 1 collaboration
Mary-Louise Freckmann 1 collaboration
Christine Fauth 1 collaboration
Teresa Giugliano 1 collaboration
Sandra Giustini 1 collaboration
Allison Goetsch 1 collaboration
Yael Goldberg 1 collaboration
Karen W Gripp 1 collaboration
Eric Haan 1 collaboration
Tamara L Haygarth 1 collaboration
Katelyn Hodge 1 collaboration
Robert J Hopkin 1 collaboration
Louanne Hudgins 1 collaboration
Kory Keller 1 collaboration
Aaina Kochhar 1 collaboration
Jan Liebelt 1 collaboration
Angie Lichty 1 collaboration
Michael J Lyons 1 collaboration
Isabelle Maystadt 1 collaboration
Lesley K McGregor 1 collaboration
Daniela Melis 1 collaboration
June Ortenberg 1 collaboration
Karin Panzer 1 collaboration
John G Pappas 1 collaboration
Giulio Piluso 1 collaboration
Valentina Pinna 1 collaboration
Eniko K Pivnick 1 collaboration
Cynthia M Powell 1 collaboration
Caleb Rogers 1 collaboration
Noa Ruhrman Shahar 1 collaboration
Sarah A Sandaradura 1 collaboration
Claudia Santoro 1 collaboration
Ulrich A Schatz 1 collaboration
Allison Schreiber 1 collaboration
Elizabeth A Sellars 1 collaboration
Ruth Sheffer 1 collaboration
John M Slopis 1 collaboration
Rosemarie Smith 1 collaboration
Alberto Spalice 1 collaboration
David W Stockton 1 collaboration
Haley Streff 1 collaboration
Amy Theos 1 collaboration
Gail E Tomlinson 1 collaboration
Grace Tran 1 collaboration
Eva Trevisson 1 collaboration
Jenneke Van den Ende 1 collaboration
Stephanie E Wallace 1 collaboration
David D Weaver 1 collaboration
Kaleb H Yohay 1 collaboration
Jonathan Zonana 1 collaboration
Vickie Zurcher 1 collaboration
Marica Eoli 1 collaboration
Belen Garcia 1 collaboration
Nuria Catasus 1 collaboration
Andrea Ros 1 collaboration
Inma Rosas 1 collaboration
Alejandro Negro 1 collaboration
Ana Maria Valero 1 collaboration
Anna Duat-Rodriguez 1 collaboration
Juan Luis Becerra 1 collaboration
Sandra Bonache 1 collaboration
Conxi Lázaro Garcia 1 collaboration
Carmina Comas 1 collaboration
Isabel Bielsa 1 collaboration
Eduard Serra 1 collaboration
Elisabeth Castellanos 1 collaboration
Ignacio Blanco 1 collaboration