Bloch-Zupan, Agn??s : rechercher sur Z-Library

Susan Parekh, Anna Kyriazidou, Agnes Bloch-Zupan, Graham Roberts

Année:

2007

Langue:

english

Fichier:

PDF, 672 KB

english, 2007

Multiple pulp stones and shortened roots of unknown etiology

Journal:

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology

Année:

2006

Langue:

english

Fichier:

PDF, 208 KB

english, 2006

Otodental syndrome

Agnès Bloch-Zupan, Jane R Goodman

Journal:

Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet, Agnès Bloch-Zupan

Année:

2006

Langue:

english

Fichier:

PDF, 179 KB

english, 2006

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Journal:

Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel…

Année:

2009

Langue:

english

Fichier:

PDF, 780 KB

english, 2009

A possible cranio-oro-facial phenotype in Cockayne syndrome

Journal:

de la Dure-Molla, Muriel, Quentric, Mickael, Yamaguti, Paulo, Acevedo, Ana-Carolina, Mighell, Alan J, Vikkula, Miikka, Huckert, Mathilde, Berdal, Ariane, Bloch-Zupan, Agnes

Année:

2013

Langue:

english

Fichier:

PDF, 361 KB

english, 2013

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 711 KB

english, 2014

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

Faisal Idrees, Agnes Bloch-Zupan, Samantha L. Free, Daniela Vaideanu, Pamela J. Thompson, Paul Ashley, Glen Brice, Paul Rutland, Maria Bitner-Glindzicz, Peng T. Khaw, Scott Fraser, Sanjay M. Sisodiya,

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 252 KB

english, 2006

Clinical utility gene card for: hypophosphatasia

Mornet, Etienne, Beck, Christine, Bloch-Zupan, Agnès, Girschick, Hermann, Le Merrer, Martine

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 156 KB

english, 2010

In vitro Effects of retinoic acid on mouse incisor development

Agnès Bloch-Zupan, Manuel P. Mark, Bruno Weber, Jean Victor Ruch

Journal:

Archives of Oral Biology

Année:

1994

Langue:

english

Fichier:

PDF, 5.36 MB

english, 1994

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

David A. Parry, Alan J. Mighell, Walid El-Sayed, Roger C. Shore, Ismail K. Jalili, Hélène Dollfus, Agnes Bloch-Zupan, Roman Carlos, Ian M. Carr, Louise M. Downey, Katharine M. Blain, David C. Mansfiel

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2009

Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

Agnès Bloch-Zupan, Xavier Jamet, Christelle Etard, Virginie Laugel, Jean Muller, Véronique Geoffroy, Jean-Pierre Strauss, Valérie Pelletier, Vincent Marion, Olivier Poch, Uwe Strahle, Corinne Stoetzel

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 732 KB

english, 2011

Expression of nuclear retinoic acid receptors during mouse odontogenesis

Agnès Bloch-Zupan, Didier Décimo, Maria Loriot, Manuel P. Mark, Jean Victor Ruch

Journal:

Differentiation

Année:

1994

Langue:

english

Fichier:

PDF, 1.15 MB

english, 1994

Involvement of cellular retinoic acid-binding proteins I and II (CRABPI and CRABPII) and of the cellular retinol-binding protein I (CRBPI) in odontogenesis in the mouse

Manuel P. Mark, Agnes Bloch-Zupan, Catherine Wolf, Ester Ruberte, Jean Victor Ruch

Journal:

Differentiation

Année:

1991

Langue:

english

Fichier:

PDF, 1.57 MB

english, 1991

Dento/Oro/Craniofacial Anomalies and Genetics || Anomalies in Structure of Teeth – Dentine

Année:

2012

Langue:

english

Fichier:

PDF, 404 KB

english, 2012

Dento/Oro/Craniofacial Anomalies and Genetics || Anomalies Structure of Teeth – Enamel

Année:

2012

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2012

Dento/Oro/Craniofacial Anomalies and Genetics || Anomalies of Teeth Eruption and/or Resorption

Année:

2012

Langue:

english

Fichier:

PDF, 709 KB

english, 2012

Dento/Oro/Craniofacial Anomalies and Genetics || Odontogenesis, Anomalies and Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 393 KB

english, 2012

Dento/Oro/Craniofacial Anomalies and Genetics || Pathology and Dental Anomalies

Année:

2012

Langue:

english

Fichier:

PDF, 201 KB

english, 2012

Dento/Oro/Craniofacial Anomalies and Genetics || Supernumerary Teeth

Année:

2012

Langue:

english

Fichier:

PDF, 625 KB

english, 2012

Dento/Oro/Craniofacial Anomalies and Genetics || Abnormalities of Tooth Shape and Size

Année:

2012

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2012

Dento/Oro/Craniofacial Anomalies and Genetics || Missing Teeth (Hypodontia and Oligodontia)

Mornet, Etienne, Hofmann, Christine, Bloch-Zupan, Agnès, Girschick, Hermann, Le Merrer, Martine

Année:

2012

Langue:

english

Fichier:

PDF, 2.96 MB

english, 2012

Clinical utility gene card for: Hypophosphatasia – update 2013

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 277 KB

english, 2014

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

Huckert, Mathilde, Mecili, Helen, Laugel-Haushalter, Virginie, Stoetzel, Corinne, Muller, Jean, Flori, Elisabeth, Laugel, Vincent, Manière, Marie-Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès

Journal:

Molecular Syndromology

Année:

2014

Langue:

english

Fichier:

PDF, 660 KB

english, 2014

Phenotypic and evolutionary implications of modulating the ERK-MAPK cascade using the dentition as a model

Marangoni, Pauline, Charles, Cyril, Tafforeau, Paul, Laugel-Haushalter, Virginie, Joo, Adriane, Bloch-Zupan, Agnès, Klein, Ophir D., Viriot, Laurent

Journal:

Scientific Reports

Année:

2015

Langue:

english

Fichier:

PDF, 1.65 MB

english, 2015

MSX2 Gene Duplication in a Patient with Eye Development Defects

Plaisancié, Julie, Collet, Corinne, Pelletier, Valerie, Perdomo, Yaumara, Studer, Fouzia, Fradin, Mélanie, Schaefer, Elise, Speeg-Schatz, Claude, Bloch-Zupan, Agnès, Flori, Elisabeth, Dollfus, Hélène

Journal:

Ophthalmic Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 627 KB

english, 2015

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation

Rossi, Massimiliano, Jones, Rachel L., Norbury, Gail, Bloch-Zupan, Agn??s, Winter, Robin M.

Journal:

Clinical Dysmorphology

Année:

2003

Langue:

english

Fichier:

PDF, 435 KB

english, 2003

Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective

International Journal of Paediatric Dentistry

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 268 KB

english, 2016

Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice

Morkmued, Supawich, Hemmerle, Joseph, Mathieu, Eric, Laugel-Haushalter, Virginie, Dabovic, Branka, Rifkin, Daniel B., Dollé, Pascal, Niederreither, Karen, Bloch-Zupan, Agnès

Journal:

European Journal of Oral Sciences

Année:

2017

Langue:

english

Fichier:

PDF, 5.30 MB

english, 2017

SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome

Schossig, Anna, Bloch-Zupan, Agnès, Lussi, Adrian, Wolf, Nicole I, Raskin, Salmo, Cohen, Monika, Giuliano, Fabienne, Jurgens, Julie, Krabichler, Birgit, Koolen, David A, de Macena Sobreira, Nara Lygia

Journal:

Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 7.00 MB

english, 2017

Legislation pertaining to rare diseases: genetic counseling, ethics, practitioner-patient relationship

Levigne, Patrick, Cordier, Christophe, Bloch-Zupan, Agnès

Journal:

Journal of Dentofacial Anomalies and Orthodontics

Année:

2014

Langue:

english

Fichier:

PDF, 123 KB

english, 2014

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

Bloch-Zupan, Agnès, Huckert, Mathilde, Stoetzel, Corinne, Meyer, Julia, Geoffroy, Véronique, Razafindrakoto, Rabisoa W., Ralison, Saholy N., Randrianaivo, Jean-Claude, Ralison, Georgette, Andriamasino

Journal:

Morkmued, Supawich, Laugel-Haushalter, Virginie, Mathieu, Eric, Schuhbaur, Brigitte, Hemmerlé, Joseph, Dollé, Pascal, Bloch-Zupan, Agnès, Niederreither, Karen

Année:

2016

Langue:

english

Fichier:

PDF, 3.29 MB

english, 2016

Retinoic Acid Excess Impairs Amelogenesis Inducing Enamel Defects

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 5.07 MB

english, 2017

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 663 KB

english, 2016

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

Hejlesen, Jane, Underbjerg, Line, Gjørup, Hans, Bloch-Zupan, Agnes, Sikjaer, Tanja, Rejnmark, Lars, Haubek, Dorte

Journal: