Ferechte Encha-Razavi: search on Z-Library

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1

Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

Chloé Quélin, Philippe Loget, Alain Verloes, Anne Bazin, Bettina Bessières, Annie Laquerrière, Sophie Patrier, Romulus Grigorescu, Ferechté Encha-Razavi, Sophie Delahaye, Jean-Marie Jouannic, Bruno Ca

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 1.84 MB

english, 2012

2

JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome

Cécile Crosnier, Tania Attié-Bitach, Férechté Encha-Razavi, Sophie Audollent, Fardouss Soudy, Michelle Hadchouel, Michèle Meunier-Rotival, Michel Vekemans

Journal:

Year:

2000

Language:

english

File:

PDF, 842 KB

english, 2000

3

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

Nicolas Chassaing, Brigitte Gilbert-Dussardier, Florence Nicot, Véronique Fermeaux, Férechté Encha-Razavi, Maryse Fiorenza, Annick Toutain, Patrick Calvas

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 130 KB

english, 2007

4

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

Agnès Guichet, Stéphane Triau, Catherine Lépinard, Chantal Esculapavit, Florence Biquard, Philippe Descamps, Férechté Encha-Razavi, Dominique Bonneau

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 161 KB

english, 2004

5

Expression of the SOX10 gene during human development

Nadege Bondurand, Alexandra Kobetz, Veronique Pingault, Nicole Lemort, Ferechte Encha-Razavi, Gerard Couly, Derk E Goerich, Michael Wegner, Marc Abitbol, Michel Goossens

Journal:

Year:

1998

Language:

english

File:

PDF, 1.06 MB

english, 1998

6

Duplication 8p11,23p11.21 impliquant le gène FGFR1 chez un fœtus présentant une agénésie complète du corps calleux par défaut de commissuration

Leroy, Camille, Encha-Razavi, Ferechte, Maurin, Marie-Laure, Mechler, Charlotte, Kuleva, Marina, Attié-Bitach, Tania, Malan, Valérie, Romana, Serge

Journal:

Year:

2017

Language:

french

File:

PDF, 58 KB

french, 2017

7

Identification of brain malformations: neuropathological approach

Férechté Encha-Razavi

Journal:

Child's Nervous System

Year:

2003

Language:

english

File:

PDF, 135 KB

english, 2003

8

Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

Marie Gonzales, Alain Verloes, Marie-Hélène Saint Frison, Chantal Perrotez, Odile Bourdet, Ferechte Encha-Razavi, Nicole Joyé, Jean-Louis Taillemite, Roland Walbaum, Rudolf Pfeiffer, Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 249 KB

english, 2005

9

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

Geneviève Quenum-Miraillet, Valérie Malan, Jelena Martinovic, Férechté Encha-Razavi, Bernard Aral, Isabelle Texier, Jean-Paul Bonnefont, M. Vekemans, Nicole Morichon-Delvallez

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 174 KB

english, 2008

10

Features of the developing brain

Férechté Encha-Razavi, Pascale Sonigo

Journal:

Child's Nervous System

Year:

2003

Language:

english

File:

PDF, 187 KB

english, 2003

11

Unusual Variant of Holoprosencephaly in Monosomy 13q

Pascale Marcorelles, Philippe Loget, Catherine Fallet-Bianco, Joëlle Roume, Ferechte Encha-Razavi, Anne-Lise Delezoide

Journal:

Pediatric and Developmental Pathology

Year:

2002

Language:

english

File:

PDF, 2.71 MB

english, 2002

12

Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome

Jocelyne Attia-Sobol, Férechté Encha-Razavi, Marc Hermier, Danielle Vitrey, Alain Verloes, Henri Plauchu

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 330 KB

english, 2001

13

Cerebro-osseous-digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu-Laxova syndrome

Alison M. Elliott, Marie Gonzales, Jean-Claude Hoeffel, Martine Le Merrer, Pierre Maroteaux, Ferechte Encha-Razavi, Nicole Joye, Colette Berchel, Christian Fliegel, David J. Aughton, Kelly Beaudry-Rod

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 530 KB

english, 2002

14

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Florence Molinari, Annick Raas-Rothschild, Marlène Rio, Giuseppe Fiermonte, Ferechté Encha-Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben-Neriah, Noman Kadhom, Michel Vekemans, Tania Attié-Bita

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 6.16 MB

english, 2005

15

Mosaic trisomy 9 and lobar holoprosencephaly

Marion Gérard-Blanluet, Claude Danan, Martine Sinico, Françoise Lelong, Elsa Borghi, Gilles Dassieu, Jean-Claude Janaud, Sylvie Odent, Férechté Encha-Razavi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 207 KB

english, 2002

16

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

Yolanda Espinosa-Parrilla, Férechté Encha-Razavi, Tania Attié-Bitach, Jelena Martinovic, Nicole Morichon-Delvallez, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Jeanne Amiel

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 124 KB

english, 2004

17

Pitfalls of the Morphologic Approach

Encha-Razavi, Ferechte´, Chelly, Jamel

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2006

Language:

english

File:

PDF, 46 KB

english, 2006

18

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Sophie Thomas, Ferechté Encha-Razavi, Louise Devisme, Heather Etchevers, Bettina Bessieres-Grattagliano, Géraldine Goudefroye, Nadia Elkhartoufi, Emilie Pateau, Amale Ichkou, Maryse Bonnière, Pascale

Journal:

Year:

2010

Language:

english

File:

PDF, 600 KB

english, 2010

19

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome

Anne-Lorraine Tellier, Jeanne Amiel, Anne-Lise Delezoide, Sophie Audollent, Joelle Augé, Dominique Esnault, Férechté Encha-Razavi, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Tania Attié-Bitac

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 2.28 MB

english, 2000

20

Differential distribution of group I metabotropic glutamate receptors in developing human cortex

Karin Boer, Ferechte Encha-Razavi, Martine Sinico, Eleonora Aronica

Journal:

Year:

2010

Language:

english

File:

PDF, 9.77 MB

english, 2010

21

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

Encha-Razavi, Férechté, Gonzalès, Marie, Laquerrière, Annie, Martinovic, Jelena, Sinico, Martine, Allias, Fabienne, Bonnière, Maryse, Esculpavit, Chantal, Gerard, Marion, Attié-Bitach, Tania, Vekemans

Journal:

Year:

2008

Language:

english

File:

PDF, 619 KB

english, 2008

22

Stress-induced unfolded protein response contributes to Zika virus–associated microcephaly

Gladwyn-Ng, Ivan, Cordón-Barris, Lluís, Alfano, Christian, Creppe, Catherine, Couderc, Thérèse, Morelli, Giovanni, Thelen, Nicolas, America, Michelle, Bessières, Bettina, Encha-Razavi, Férechté, Bonni

Journal:

Nature Neuroscience

Year:

2017

Language:

english

File:

PDF, 4.01 MB

english, 2017

23

Fetal Cerebral Hemorrhage due to X-linked GATA1 gene mutation

Bouchghoul, Hanane, Quelin, Chloé, Loget, Philippe, Encha-Razavi, Féréchté, Senat, Marie-Victoire, Maheut, Lorraine, Galimand, Julie, Collardeau-Frachon, Sophie, Da Costa, Lydie, Martinovic, Jelena

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 651 KB

english, 2018

24

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency

Caroline Kappeler, Marc Dhenain, Françoise Phan Dinh Tuy, Yoann Saillour, Serge Marty, Catherine Fallet-Bianco, Isabelle Souville, Evelyne Souil, Jean-Marc Pinard, Gundela Meyer, Ferechté Encha-Razavi

Journal:

The Journal of Comparative Neurology

Year:

2007

Language:

english

File:

PDF, 3.60 MB

english, 2007

25

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Guntram Borck, Anahi Mollà-Herman, Nathalie Boddaert, Férechté Encha-Razavi, Anne Philippe, Laurence Robel, Isabelle Desguerre, Francis Brunelle, Alexandre Benmerah, Arnold Munnich, Laurence Colleaux

Journal:

Year:

2008

Language:

english

File:

PDF, 344 KB

english, 2008

26

Giant omphalocele and “prune belly” sequence as components of the Beckwith–Wiedemann syndrome

Martine Sinico, Claudine Touboul, Bassam Haddad, Féréchté Encha-Razavi, Jean-Bernard Paniel, Christine Gicquel, Marion Gérard-Blanluet

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 107 KB

english, 2004

27

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

28

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Renaud L. Touraine, Tania Attié-Bitach, Eric Manceau, Eckhard Korsch, Pierre Sarda, Véronique Pingault, Féréchté Encha-Razavi, Anna Pelet, Joelle Augé, Annie Nivelon-Chevallier, Alexander Mathias Hols

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 799 KB

english, 2000

29

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

Marco Castori, Sofia Douzgou, Evelina Silvestri, Férechté Encha-Razavi, Bruno Dallapiccola

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 262 KB

english, 2007

30

Expression of the SMADIP1 gene during early human development

Yolanda Espinosa-Parrilla, Jeanne Amiel, Joëlle Augé, Férechté Encha-Razavi, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Tania Attié-Bitach

Journal:

Mechanisms of Development

Year:

2002

Language:

english

File:

PDF, 459 KB

english, 2002

31

PAX2 mutations in fetal renal hypodysplasia

Jelena Martinovic-Bouriel, Alexandra Benachi, Maryse Bonnière, Nora Brahimi, Chantal Esculpavit, Nicole Morichon, Michel Vekemans, Corinne Antignac, Rémi Salomon, Féréchté Encha-Razavi, Tania Attié-Bi

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 267 KB

english, 2010

32

THE SPECTRUM OF TYPE III LISSENCEPHALY: A CLINICOPATHOLOGICAL UPDATE

Allias, Fabienne, Buenerd, Annie, Bouvier, Raymonde, Attia-Sobol, Jocelyne, Dijoud, Frédérique, Clémenson, Alixe, Encha-Razavi, Férechté

Journal:

Fetal and Pediatric Pathology

Year:

2004

Language:

english

File:

PDF, 950 KB

english, 2004

33

17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

Egloff, Matthieu, Encha-Razavi, Ferechte, Garel, Catherine, Bonni�re-Darcy, Maryse, Millischer, Anne-Elodie, Lapierre, Jean-Michel, Fontaine, Sophie, de Blois, Marie-Christine, Vekemans, Michel, Turle

Journal:

Cytogenetic and Genome Research

Year:

2014

Language:

english

File:

PDF, 139 KB

english, 2014

34

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy

Laquerriere, Annie, Gonzales, Marie, Saillour, Yoann, Cavallin, Mara, Joyē, Nicole, Quēlin, Chloé, Bidat, Laurent, Dommergues, Marc, Plessis, Ghislaine, Encha-Razavi, Ferechte, Chelly, Jamel, Bahi-Bui

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 4.17 MB

english, 2016

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