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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
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Kyle P. Johnson
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Angela R. Jackman
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Jan Blancato
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Marjan Huizing
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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
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Rooksana E. Noorai
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Alison N. Starr-Moss
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Pascale Quignon
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Caitlin J. Rinz
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et al.
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inserm-00645713v1
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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Benjamin D. Solomon
,
Kelly A. Bear
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Adrian Wyllie
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Amelia A. Keaton
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Christele Dubourg
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et al.
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inserm-00718148v1
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
Erin Rooney Riggs
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Taylor Bingaman
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Carrie-Ann Barry
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Andrea Behlmann
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Krista Bluske
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et al.
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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
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Loubna Boukhzar
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Benjamin Lefranc
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David Godefroy
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Juliette Aury-Landas
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et al.
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hal-03132187v1
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Genetics of canine olfaction and receptor diversity.
Pascale Quignon
,
Maud Rimbault
,
Stéphanie Robin
,
Francis Galibert
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
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Sandra Mercier
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Nancy J. Clegg
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Mauricio R. Delgado
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et al.
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inserm-00439659v1
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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
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Kenia B. El-Jaick
,
Christèle Dubourg
,
Jorge I. Vélez
,
Benjamin D. Solomon
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et al.
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inserm-00406224v1
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Holoprosencephaly flashcards: A summary for the clinician.
Benjamin D Solomon
,
Daniel E Pineda-Alvarez
,
Sandra Mercier
,
Manu S Raam
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Sylvie Odent
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et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.3-7. ⟨10.1002/ajmg.c.30245⟩
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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
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Elodie Jouanno
,
et al.
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hal-02937875v1
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Epidemiology, pathology, and genetics of histiocytic sarcoma in the Bernese mountain dog breed.
Jérôme Abadie
,
Benoît Hédan
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Edouard Cadieu
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Clotilde de Brito
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Patrick Devauchelle
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et al.
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inserm-00405708v1
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A simple genetic architecture underlies morphological variation in dogs.
Adam R. Boyko
,
Pascale Quignon
,
Lin Li
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Jeffrey J. Schoenebeck
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Jeremiah D. Degenhardt
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et al.
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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
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Catalina Betancur
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Christopher Gillberg
,
Göran Annerén
,
et al.
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
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Heidi G Parker
,
Alberto Carmagnini
,
Nicolas Dubos
,
et al.
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.
2019
Preprints, Working Papers, ...
hal-02790844v1
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Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Erich Roessler
,
Yong Ma
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Maia Ouspenskaia
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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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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné
,
Sophie Ehresmann
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Eliane Beauregard-Lacroix
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Justine Rousseau
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Thomas Besnard
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et al.
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hal-02181523v1
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The MTAP-CDKN2A Locus Confers Susceptibility to a Naturally Occurring Canine Cancer.
Abigail L. Shearin
,
Benoît Hédan
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Edouard Cadieu
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Suzanne A. Erich
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Emmett V. Schmidt
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et al.
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inserm-00702852v1
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Sandra Donkervoort
,
Niklas Krause
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Mykola Dergai
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Pomi Yun
,
Judith Koliwer
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et al.
Journal articles
hal-03662312v1
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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.
Journal articles
hal-02639685v1
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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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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⟩
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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.
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
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Stephanie Smith
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Elizabeth Brooks
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Zelin Chen
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et al.
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
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Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication.
Bridgett M. Vonholdt
,
John P. Pollinger
,
Kirk E. Lohmueller
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Eunjung Han
,
Heidi G. Parker
,
et al.
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
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et al.
Journal articles
inserm-03537999v1
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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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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.
Journal articles
inserm-00511120v1
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