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Structure: Internal structure identifier : 51650

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

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.
The Journal of Heredity, 2009, 100 Suppl 1, pp.S19-27. ⟨10.1093/jhered/esp039⟩
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
Methods in Molecular Biology, 2008, 422, pp.65-77. ⟨10.1007/978-1-59745-581-7_5⟩
Journal articles hal-00303768v1

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.
Human Genetics, 2009, 125 (4), pp.393-400. ⟨10.1007/s00439-009-0628-7⟩
Journal articles inserm-00366120v1

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.
Nature Genetics, 2008, 40 (11), pp.1348-53. ⟨10.1038/ng.230⟩
Journal articles inserm-00353024v1

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.
Human Mutation, 2009, 30 (10), pp.E921-35. ⟨10.1002/humu.21090⟩
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 of Medical Genetics, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Journal articles inserm-00439659v1

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

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

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 of Investigative Dermatology, 2015, 135 (4), pp.1187-90. ⟨10.1038/jid.2014.526⟩
Journal articles hal-01116377v1

The genetics of canine olfaction

F. Galibert , N. Azzouzi , P. Quignon , G Chaudieu
Conference papers hal-01198643v1

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.
Disease Models & Mechanisms, 2016, 9 (12), pp.1445--1460. ⟨10.1242/dmm.027037⟩
Journal articles hal-01478387v1

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.
American Journal of Medical Genetics Part A, 2009, 149A (7), pp.1382-91. ⟨10.1002/ajmg.a.32846⟩
Journal articles inserm-00405710v1

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.
Mammalian Genome, 2012, 23 (1-2), pp.203-11. ⟨10.1007/s00335-011-9376-9⟩
Journal articles inserm-00645713v1

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 of Medical Genetics, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
Journal articles inserm-00718148v1

Canine olfactory genetics (chap 17)

P. Quignon , S. Robin , F. Galibert
Ostrander, E. A., Ruvinsky, A. (eds.). The genetics of the dog, CAB International, pp.375-393, 2012, ⟨10.1079/9781845939403.0375⟩
Book sections hal-01117500v1

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.
Endocrinology, 2003, 144 (6), pp.2368-2379. ⟨10.1210/en.2002-0106⟩
Journal articles hal-02334705v1

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.
Cancer Epidemiology, Biomarkers and Prevention, 2012, 21 (7), pp.1019-1027. ⟨10.1158/1055-9965.EPI-12-0190-T⟩
Journal articles inserm-00702852v1

Holoprosencephaly-Polydactyly syndrome: in search of an etiology.

Dwight R Cordero , Claude Bendavid , Alan L Shanske , Bassem R Haddad , Maximilian Muenke et al.
European Journal of Medical Genetics, 2008, 51 (2), pp.106-12. ⟨10.1016/j.ejmg.2007.08.004⟩
Journal articles hal-00203732v1

Comparison of the canine and human olfactory receptor gene repertoires

Pascale Quignon , Ewen F. Kirkness , Edouard Cadieu , Nizar Touleimat , Richard Guyon et al.
Genome Biology, In press, 4 (12), ⟨10.1186/gb-2003-4-12-r80⟩
Journal articles cea-01833183v1

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.
BMC Genomics, 2009, 10 (1), pp.62. ⟨10.1186/1471-2164-10-62⟩
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.
European Journal of Human Genetics, 2011, 19 (1), preceeding 118-20. ⟨10.1038/ejhg.2010.110⟩
Journal articles inserm-00511701v1

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.
Human Mutation, 2009, 30 (4), pp.E541-54. ⟨10.1002/humu.20982⟩
Journal articles inserm-00365990v1

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.
Science, 2009, 326 (5949), pp.150-3. ⟨10.1126/science.1177808⟩
Journal articles inserm-00412221v1