Special Issue: Holoprosencephaly
Maximilian Muenke
,
Benjamin Solomon
,
Sylvie Odent
American Journal of Medical Genetics Part C: Seminars in Medical Genetics , 2010, 144C (1), pp.1-201
Journal articles
hal-01120434v1
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Epidemiology, pathology, and genetics of histiocytic sarcoma in the Bernese mountain dog breed.
Jérôme Abadie
,
Benoît Hédan
,
Edouard Cadieu
,
Clotilde de Brito
,
Patrick Devauchelle
et al.
Journal articles
inserm-00405708v1
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Survey sequencing and radiation hybrid mapping to construct comparative maps.
Christophe Hitte
,
Ewen F. Kirkness
,
Elaine A Ostrander
,
Francis Galibert
Journal articles
hal-00303768v1
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Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Erich Roessler
,
Yong Ma
,
Maia Ouspenskaia
,
Felicitas Lacbawan
,
Claude Bendavid
et al.
Journal articles
inserm-00366120v1
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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Yongsu Jeong
,
Federico Coluccio Leskow
,
Kenia B. El-Jaick
,
Erich Roessler
,
Maximilian Muenke
et al.
Journal articles
inserm-00353024v1
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The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Erich Roessler
,
Kenia B. El-Jaick
,
Christèle Dubourg
,
Jorge I. Vélez
,
Benjamin D. Solomon
et al.
Journal articles
inserm-00406224v1
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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Benjamin D. Solomon
,
Felicitas Lacbawan
,
Sandra Mercier
,
Nancy J. Clegg
,
Mauricio R. Delgado
et al.
Journal articles
inserm-00439659v1
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Genetics of Canine Olfaction
Pascale Quignon
,
Francis Galibert
Jezierski; T. and Ensminger; J. and Papet; L. E.
Canine Olfaction Science and Law , CRC Press, pp.39-48, 2016, Advances in Forensic Science, Medicine, Conservation, and Environmental Remediation, 978-1-4822-6023-6.
⟨10.1201/b20027-6⟩
Book sections
hal-01305482v1
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Holoprosencephaly flashcards: A summary for the clinician.
Benjamin D Solomon
,
Daniel E Pineda-Alvarez
,
Sandra Mercier
,
Manu S Raam
,
Sylvie Odent
et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics , 2010, 154C (1), pp.3-7.
⟨10.1002/ajmg.c.30245⟩
Journal articles
istex
inserm-00462060v1
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A Spontaneous KRT16 Mutation in a Dog Breed: A Model for Human Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK).
Jocelyn Plassais
,
Eric Guaguère
,
Laetitia Lagoutte
,
Anne-Sophie Guillory
,
Caroline Dufaure de Citres
et al.
Journal articles
hal-01116377v1
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The genetics of canine olfaction
F. Galibert
,
N. Azzouzi
,
P. Quignon
,
G Chaudieu
CANINE BEHAVIOUR AND GENETICS MEETING , 2015, London, United Kingdom
Conference papers
hal-01198643v1
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Whole-genome sequence, SNP chips and pedigree structure: building demographic profiles in domestic dog breeds to optimize genetic-trait mapping
Dayna L. Dreger
,
Maud Rimbault
,
Brian W. Davis
,
Adrienne Bhatnagar
,
Heidi G. Parker
et al.
Journal articles
hal-01478387v1
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Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.
Eilis A. Boudreau
,
Kyle P. Johnson
,
Angela R. Jackman
,
Jan Blancato
,
Marjan Huizing
et al.
Journal articles
inserm-00405710v1
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Genome-wide association studies for multiple diseases of the German Shepherd Dog.
Kate L. Tsai
,
Rooksana E. Noorai
,
Alison N. Starr-Moss
,
Pascale Quignon
,
Caitlin J. Rinz
et al.
Journal articles
inserm-00645713v1
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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Benjamin D. Solomon
,
Kelly A. Bear
,
Adrian Wyllie
,
Amelia A. Keaton
,
Christele Dubourg
et al.
Journal articles
inserm-00718148v1
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Canine olfactory genetics (chap 17)
P. Quignon
,
S. Robin
,
F. Galibert
Book sections
hal-01117500v1
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Microarray and Suppression Subtractive Hybridization Analyses of Gene Expression in Pheochromocytoma Cells Reveal Pleiotropic Effects of Pituitary Adenylate Cyclase-Activating Polypeptide on Cell Proliferation, Survival, and Adhesion
Luca Grumolato
,
Abdel G. Elkahloun
,
Hafida Ghzili
,
David Alexandre
,
Cédric Coulouarn
et al.
Journal articles
hal-02334705v1
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The MTAP-CDKN2A Locus Confers Susceptibility to a Naturally Occurring Canine Cancer.
Abigail L. Shearin
,
Benoît Hédan
,
Edouard Cadieu
,
Suzanne A. Erich
,
Emmett V. Schmidt
et al.
Journal articles
inserm-00702852v1
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Holoprosencephaly-Polydactyly syndrome: in search of an etiology.
Dwight R Cordero
,
Claude Bendavid
,
Alan L Shanske
,
Bassem R Haddad
,
Maximilian Muenke
et al.
Journal articles
hal-00203732v1
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Comparison of the canine and human olfactory receptor gene repertoires
Pascale Quignon
,
Ewen F. Kirkness
,
Edouard Cadieu
,
Nizar Touleimat
,
Richard Guyon
et al.
Journal articles
cea-01833183v1
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Analysis of genotype-phenotype correlations in human holoprosencephaly.
Benjamin D. Solomon
,
Sandra Mercier
,
Jorge I. Vélez
,
Daniel Pineda-Alvarez
,
Adrian Wyllie
et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics , 2010, 154C (1), pp.133-41.
⟨10.1002/ajmg.c.30240⟩
Journal articles
inserm-00461997v1
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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
Daniel Pineda-Alvarez
,
Christèle Dubourg
,
Véronique David
,
Erich Roessler
,
Maximilian Muenke
et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics , 2010, 154C (1), pp.93-101.
⟨10.1002/ajmg.c.30253⟩
Journal articles
inserm-00462036v1
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Revisiting the missing protein-coding gene catalog of the domestic dog.
Thomas Derrien
,
Julien Thézé
,
Amaury Vaysse
,
Catherine André
,
Elaine A. Ostrander
et al.
Journal articles
inserm-00366111v1
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Clinical utility gene card for: Holoprosencephaly.
Christèle Dubourg
,
Véronique David
,
Andrea Gropman
,
Sandra Mercier
,
Maximilian Muenke
et al.
Journal articles
inserm-00511701v1
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The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Erich Roessler
,
Felicitas Lacbawan
,
Christèle Dubourg
,
Aimee Paulussen
,
Jos Herbergs
et al.
Journal articles
inserm-00365990v1
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Coat variation in the domestic dog is governed by variants in three genes.
Edouard Cadieu
,
Mark Neff
,
Pascale Quignon
,
Kari Walsh
,
Kevin Chase
et al.
Journal articles
inserm-00412221v1
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