Christelle Golzio: search on Z-Library

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1

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers,

Journal:

Year:

2014

Language:

english

File:

PDF, 2.23 MB

english, 2014

2

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D., St

Journal:

Proceedings of the National Academy of Sciences

Year:

2014

Language:

english

File:

PDF, 1.45 MB

english, 2014

3

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

Jelena Martinovic-Bouriel, Céline Bernabé-Dupont, Christelle Golzio, Bettina Grattagliano-Bessières, Valérie Malan, Maryse Bonnière, Chantal Esculpavit, Catherine Fallet-Bianco, Véronique Mirlesse, Je

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 471 KB

english, 2007

4

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

Tian, Hongyu, Mythreye, Karthikeyan, Golzio, Christelle, Katsanis, Nicholas, Blobe, Gerard C

Journal:

The EMBO Journal

Year:

2012

Language:

english

File:

PDF, 3.75 MB

english, 2012

5

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.13 MB

english, 2013

6

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.43 MB

english, 2017

7

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, Jelena Martinovic-Bouriel, Francesco Danilo Tiziano, Lucia Masini, Francesca Piro, Giovanna Maragliano, Anne-

Journal:

Year:

2009

Language:

english

File:

PDF, 205 KB

english, 2009

8

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

Golzio, Christelle, Havis, Emmanuelle, Daubas, Philippe, Nuel, Gregory, Babarit, Candice, Munnich, Arnold, Vekemans, Michel, Zaffran, Stéphane, Lyonnet, Stanislas, Etchevers, Heather C., Schubert, Mic

Journal:

Year:

2012

Language:

english

File:

PDF, 1.11 MB

english, 2012

9

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Christelle Golzio, Jessica Guirchoun, Catherine Ozilou, Sophie Thomas, Géraldine Goudefroye, Nicole Morichon-Delvallez, Michel Vekemans, Tania Attié-Bitach, Heather C. Etchevers

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 207 KB

english, 2006

10

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Sarah Boissel, Orit Reish, Karine Proulx, Hiroko Kawagoe-Takaki, Barbara Sedgwick, Giles S.H. Yeo, David Meyre, Christelle Golzio, Florence Molinari, Noman Kadhom, Heather C. Etchevers, Vladimir Saude

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 859 KB

english, 2009

11

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Delous, Marion, Baala, Lekbir, Salomon, Rémi, Laclef, Christine, Vierkotten, Jeanette, Tory, Kàlmàn, Golzio, Christelle, Lacoste, Tiphanie, Besse, Laurianne, Ozilou, Catherine

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 672 KB

english, 2007

12

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

13

Genetic architecture of reciprocal CNVs

Golzio, Christelle, Katsanis, Nicholas

Journal:

Current Opinion in Genetics & Development

Year:

2013

Language:

english

File:

PDF, 616 KB

english, 2013

14

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Niederriter, Adrienne R., Davis, Erica E., Golzio, Christelle, Oh, Edwin C., Tsai, I-Chun, Katsanis, Nicholas

Journal:

Journal of Visualized Experiments

Year:

2013

Language:

english

File:

PDF, 1.26 MB

english, 2013

15

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

Tsai, I-Chun, McKnight, Kelly, McKinstry, Spencer U., Maynard, Andrew T., Tan, Perciliz L., Golzio, Christelle, White, C. Thomas, Price, Daniel J., Davis, Erica E., Amrine-Madsen, Heather, Katsanis, N

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 2.40 MB

english, 2018

16

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.55 MB

english, 2013

17

Endoglin interacts with VEGFR2 to promote angiogenesis

Tian, Hongyu, Huang, Jennifer J., Golzio, Christelle, Gao, Xia, Hector-Greene, Melissa, Katsanis, Nicholas, Blobe, Gerard C.

Journal:

The FASEB Journal

Year:

2018

Language:

english

File:

PDF, 3.09 MB

english, 2018

18

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Golzio, Christelle, Willer, Jason, Talkowski, Michael E., Oh, Edwin C., Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F., Kamiya, Atsushi, Beckmann, J

Journal:

Year:

2012

Language:

english

File:

PDF, 1.12 MB

english, 2012

19

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Picard, Anne Durandy, Angus Dobbie, Delphine Heron, Bertrand Isidor, Jacqu

Journal:

Year:

2009

Language:

english

File:

PDF, 659 KB

english, 2009

20

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Soumaya Mougou-Zrelli, Bettina Grattagliano-Bessières, Maryse Bonnière, Sophie Delahaye, Arnold Munnich, Férechté Encha-Razavi, Stanislas L

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 195 KB

english, 2007

21

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C., Harewood, Louise, Kosmicki, Jack A., Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, An

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.23 MB

english, 2015

22

Identification of cis-suppression of human disease mutations by comparative genomics

Jordan, Daniel M., Frangakis, Stephan G., Golzio, Christelle, Cassa, Christopher A., Kurtzberg, Joanne, Davis, Erica E., Sunyaev, Shamil R., Katsanis, Nicholas

Journal:

Year:

2015

Language:

english

File:

PDF, 2.35 MB

english, 2015

23

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway

Reinardy, Jessica L., Corey, Daniel M., Golzio, Christelle, Mueller, Sarah B., Katsanis, Nicholas, Kontos, Christopher D., Ramchandran, Ramani

Journal:

Year:

2015

Language:

english

File:

PDF, 3.45 MB

english, 2015

24

Program/Abstract # 500

Christelle Golzio, Emmanuelle Havis, Gregory Nuel, Candice Babarit, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Heather Etchevers

Journal:

Developmental Biology

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

25

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve,

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.63 MB

english, 2016

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