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Structure: Internal structure identifier : 344376

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
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Erin Rooney Riggs , Taylor Bingaman , Carrie-Ann Barry , Andrea Behlmann , Krista Bluske , et al.
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
Journal articles inserm-03816347v1
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Cell-penetrating, antioxidant SELENOT mimetic protects dopaminergic neurons and ameliorates motor dysfunction in Parkinson's disease animal models

Ifat Alsharif , Loubna Boukhzar , Benjamin Lefranc , David Godefroy , Juliette Aury-Landas , et al.
Redox Biology, 2021, 40, pp.101839. ⟨10.1016/j.redox.2020.101839⟩
Journal articles hal-03132187v1

Genetics of canine olfaction and receptor diversity.

Pascale Quignon , Maud Rimbault , Stéphanie Robin , Francis Galibert
Mammalian Genome, 2012, 23 (1-2), pp.132-43. ⟨10.1007/s00335-011-9371-1⟩
Journal articles istex inserm-00643175v1
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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

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

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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Sex chromosome and sex locus characterization in goldfish, Carassius auratus (Linnaeus, 1758)

Ming Wen , Romain Feron , Qiaowei Pan , Justine Guguin , Elodie Jouanno , et al.
BMC Genomics, 2020, 21 (1), pp.1-12. ⟨10.1186/s12864-020-06959-3⟩
Journal articles hal-02937875v1

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 of Heredity, 2009, 100 Suppl 1, pp.S19-27. ⟨10.1093/jhered/esp039⟩
Journal articles inserm-00405708v1
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A simple genetic architecture underlies morphological variation in dogs.

Adam R. Boyko , Pascale Quignon , Lin Li , Jeffrey J. Schoenebeck , Jeremiah D. Degenhardt , et al.
PLoS Biology, 2010, 8 (8), pp.e1000451. ⟨10.1371/journal.pbio.1000451⟩
Journal articles inserm-00512737v1
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A Balanced Reciprocal Translocation t(5;7)(q14;q32) Associated With Autistic Disorder: Molecular Analysis of the Chromosome 7 Breakpoint

Dmitry Tentler , Göran Brandberg , Catalina Betancur , Christopher Gillberg , Göran Annerén , et al.
American Journal of Medical Genetics, 2001, 105 (8), pp.729-736. ⟨10.1002/ajmg.1607⟩
Journal articles inserm-03953158v1
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Natural and human-driven selection of a single non-coding body size variant in ancient and modern canids

Jocelyn Plassais , Bridgett M Vonholdt , Heidi G Parker , Alberto Carmagnini , Nicolas Dubos , et al.
Current Biology - CB, 2022, 32 (4), pp.889-897.e9. ⟨10.1016/j.cub.2021.12.036⟩
Journal articles hal-03555249v1
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Sex chromosome and sex locus characterization in the goldfish, Carassius auratus

Ming Wen , Romain Feron , Qiaowei Pan , Justine Guguin , Elodie Jouanno , et al.
Preprints, Working Papers, ... hal-02790844v1

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
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard , et al.
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
Journal articles hal-02181523v1

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

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Sandra Donkervoort , Niklas Krause , Mykola Dergai , Pomi Yun , Judith Koliwer , et al.
EMBO Molecular Medicine, 2021, 13 (12), ⟨10.15252/emmm.202013787⟩
Journal articles hal-03662312v1

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Georg B. Ehret , Teresa Ferreira , Daniel I. Chasman , Anne U. Jackson , Ellen M. Schmidt , et al.
Nature Genetics, 2016, 48 (10), pp.1171-1184. ⟨10.1038/ng.3667⟩
Journal articles hal-02639685v1

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

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Simon Ramsbottom , Peter Thelwall , Katrina Wood , Gavin Clowry , Laura Devlin , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (2), pp.1113-1118. ⟨10.1073/pnas.1912602117⟩
Journal articles hal-03932210v1
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The genomic landscape shaped by selection on transposable elements across 18 mouse strains

Christoffer Nellåker , Thomas Keane , Binnaz Yalcin , Kim Wong , Avigail Agam , et al.
Genome Biology, 2012, 13 (6), pp.R45. ⟨10.1186/gb-2012-13-6-r45⟩
Journal articles inserm-03949190v1
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Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease

Hye-Ri Kang , Monika Gjorgjieva , Stephanie Smith , Elizabeth Brooks , Zelin Chen , et al.
Molecular Therapy - Methods and Clinical Development, 2019, 15, pp.383-391. ⟨10.1016/j.omtm.2019.10.016⟩
Journal articles inserm-02490225v1
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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
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

Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication.

Bridgett M. Vonholdt , John P. Pollinger , Kirk E. Lohmueller , Eunjung Han , Heidi G. Parker , et al.
Nature, 2010, 464 (7290), pp.898-902. ⟨10.1038/nature08837⟩
Journal articles inserm-00466086v1
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TCF1 Is Required for the T Follicular Helper Cell Response to Viral Infection

Tuoqi Wu , Hyun mu Shin , E. ashley Moseman , Yun Ji , Bonnie Huang , et al.
Cell Reports, 2015, 12 (12), pp.2099-2110. ⟨10.1016/j.celrep.2015.08.049⟩
Journal articles inserm-03537999v1

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

Family-based association analysis of 42 hereditary prostate cancer families identifies the Apolipoprotein L3 region on chromosome 22q12 as a risk locus.

Bo Johanneson , Shannon K. Mcdonnell , Danielle M. Karyadi , Pascale Quignon , Laura Mcintosh , et al.
Human Molecular Genetics, 2010, 19 (19), pp.3852-62. ⟨10.1093/hmg/ddq283⟩
Journal articles inserm-00511120v1