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1S. Jacquemont ; A. Reymond ; F. Zufferey ; L. Harewood ; R. G. Walters ; Z. Kutalik ; D. Martinet ; Y. Shen ; A. Valsesia ; N. D. Beckmann ; G. Thorleifsson ; M. Belfiore ; S. Bouquillon ; D. Campion ; N. de Leeuw ; B. B. de Vries ; T. Esko ; B. A. Fernandez ; F. Fernandez-Aranda ; J. M. Fernandez-Real ; M. Gratacos ; A. Guilmatre ; J. Hoyer ; M. R. Jarvelin ; R. F. Kooy ; A. Kurg ; C. Le Caignec ; K. Mannik ; O. S. Platt ; D. Sanlaville ; M. M. Van Haelst ; S. Villatoro Gomez ; F. Walha ; B. L. Wu ; Y. Yu ; A. Aboura ; M. C. Addor ; Y. Alembik ; S. E. Antonarakis ; B. Arveiler ; M. Barth ; N. Bednarek ; F. Bena ; S. Bergmann ; M. Beri ; L. Bernardini ; B. Blaumeiser ; D. Bonneau ; A. Bottani ; O. Boute ; H. G. Brunner ; D. Cailley ; P. Callier ; J. Chiesa ; J. Chrast ; L. Coin ; C. Coutton ; J. M. Cuisset ; J. C. Cuvellier ; A. David ; B. de Freminville ; B. Delobel ; M. A. Delrue ; B. Demeer ; D. Descamps ; G. Didelot ; K. Dieterich ; V. Disciglio ; M. Doco-Fenzy ; S. Drunat ; B. Duban-Bedu ; C. Dubourg ; J. S. El-Sayed Moustafa ; P. Elliott ; B. H. Faas ; L. Faivre ; A. Faudet ; F. Fellmann ; A. Ferrarini ; R. Fisher ; E. Flori ; L. Forer ; D. Gaillard ; M. Gerard ; C. Gieger ; S. Gimelli ; G. Gimelli ; H. J. Grabe ; A. Guichet ; O. Guillin ; A. L. Hartikainen ; D. Heron ; L. Hippolyte ; M. Holder ; G. Homuth ; B. Isidor ; S. Jaillard ; Z. Jaros ; S. Jimenez-Murcia ; G. J. Helas ; P. Jonveaux ; S. Kaksonen ; B. Keren ; A. Kloss-Brandstatter ; N. V. Knoers ; D. A. Koolen ; P. M. Kroisel ; F. Kronenberg ; A. Labalme ; E. Landais ; E. Lapi ; V. Layet ; S. Legallic ; B. Leheup ; B. Leube ; S. Lewis ; J. Lucas ; K. D. MacDermot ; P. Magnusson ; C. Marshall ; M. Mathieu-Dramard ; M. I. McCarthy ; T. Meitinger ; M. A. Mencarelli ; G. Merla ; A. Moerman ; V. Mooser ; F. Morice-Picard ; M. Mucciolo ; M. Nauck ; N. C. Ndiaye ; A. Nordgren ; L. Pasquier ; F. Petit ; R. Pfundt ; G. Plessis ; E. Rajcan-Separovic ; G. P. Ramelli ; A. Rauch ; R. Ravazzolo ; A. Reis ; A. Renieri ; C. Richart ; J. S. Ried ; C. Rieubland ; W. Roberts ; K. M. Roetzer ; C. Rooryck ; M. Rossi ; E. Saemundsen ; V. Satre ; C. Schurmann ; E. Sigurdsson ; D. J. Stavropoulos ; H. Stefansson ; C. Tengstrom ; U. Thorsteinsdottir ; F. J. Tinahones ; R. Touraine ; L. Vallee ; E. van Binsbergen ; N. Van der Aa ; C. Vincent-Delorme ; S. Visvikis-Siest ; P. Vollenweider ; H. Volzke ; A. T. Vulto-van Silfhout ; G. Waeber ; C. Wallgren-Pettersson ; R. M. Witwicki ; S. Zwolinksi ; J. Andrieux ; X. Estivill ; J. F. Gusella ; O. Gustafsson ; A. Metspalu ; S. W. Scherer ; K. Stefansson ; A. I. Blakemore ; J. S. Beckmann ; P. Froguel
Nature Publishing Group (NPG)
Published 2011Staff ViewPublication Date: 2011-09-02Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adolescent ; Adult ; Aged ; Aging ; Body Height/genetics ; *Body Mass Index ; Case-Control Studies ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16/*genetics ; Cohort Studies ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Energy Metabolism/genetics ; Europe ; Female ; Gene Dosage/*genetics ; Gene Duplication/genetics ; Gene Expression Profiling ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Head/anatomy & histology ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Disorders/genetics ; Middle Aged ; Mutation/genetics ; North America ; Obesity/*genetics ; *Phenotype ; RNA, Messenger/analysis/genetics ; Sequence Deletion/genetics ; Thinness/*genetics ; Transcription, Genetic ; Young AdultPublished by: -
2C. Gilissen ; J. Y. Hehir-Kwa ; D. T. Thung ; M. van de Vorst ; B. W. van Bon ; M. H. Willemsen ; M. Kwint ; I. M. Janssen ; A. Hoischen ; A. Schenck ; R. Leach ; R. Klein ; R. Tearle ; T. Bo ; R. Pfundt ; H. G. Yntema ; B. B. de Vries ; T. Kleefstra ; H. G. Brunner ; L. E. Vissers ; J. A. Veltman
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-06-05Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Chromosomes, Human, Pair 4/genetics ; Chromosomes, Human, X/genetics ; Cohort Studies ; DNA Copy Number Variations/*genetics ; Gene Duplication/genetics ; Genome, Human/*genetics ; Guanine Nucleotide Exchange Factors/genetics ; Humans ; Intellectual Disability/*genetics ; Male ; Mutation/*genetics ; Polymorphism, Single Nucleotide/*genetics ; *Sequence Analysis, DNAPublished by: -
3D. P. Hibar ; J. L. Stein ; M. E. Renteria ; A. Arias-Vasquez ; S. Desrivieres ; N. Jahanshad ; R. Toro ; K. Wittfeld ; L. Abramovic ; M. Andersson ; B. S. Aribisala ; N. J. Armstrong ; M. Bernard ; M. M. Bohlken ; M. P. Boks ; J. Bralten ; A. A. Brown ; M. M. Chakravarty ; Q. Chen ; C. R. Ching ; G. Cuellar-Partida ; A. den Braber ; S. Giddaluru ; A. L. Goldman ; O. Grimm ; T. Guadalupe ; J. Hass ; G. Woldehawariat ; A. J. Holmes ; M. Hoogman ; D. Janowitz ; T. Jia ; S. Kim ; M. Klein ; B. Kraemer ; P. H. Lee ; L. M. Olde Loohuis ; M. Luciano ; C. Macare ; K. A. Mather ; M. Mattheisen ; Y. Milaneschi ; K. Nho ; M. Papmeyer ; A. Ramasamy ; S. L. Risacher ; R. Roiz-Santianez ; E. J. Rose ; A. Salami ; P. G. Samann ; L. Schmaal ; A. J. Schork ; J. Shin ; L. T. Strike ; A. Teumer ; M. M. van Donkelaar ; K. R. van Eijk ; R. K. Walters ; L. T. Westlye ; C. D. Whelan ; A. M. Winkler ; M. P. Zwiers ; S. Alhusaini ; L. Athanasiu ; S. Ehrlich ; M. M. Hakobjan ; C. B. Hartberg ; U. K. Haukvik ; A. J. Heister ; D. Hoehn ; D. Kasperaviciute ; D. C. Liewald ; L. M. Lopez ; R. R. Makkinje ; M. Matarin ; M. A. Naber ; D. R. McKay ; M. Needham ; A. C. Nugent ; B. Putz ; N. A. Royle ; L. Shen ; E. Sprooten ; D. Trabzuni ; S. S. van der Marel ; K. J. van Hulzen ; E. Walton ; C. Wolf ; L. Almasy ; D. Ames ; S. Arepalli ; A. A. Assareh ; M. E. Bastin ; H. Brodaty ; K. B. Bulayeva ; M. A. Carless ; S. Cichon ; A. Corvin ; J. E. Curran ; M. Czisch ; G. I. de Zubicaray ; A. Dillman ; R. Duggirala ; T. D. Dyer ; S. Erk ; I. O. Fedko ; L. Ferrucci ; T. M. Foroud ; P. T. Fox ; M. Fukunaga ; J. R. Gibbs ; H. H. Goring ; R. C. Green ; S. Guelfi ; N. K. Hansell ; C. A. Hartman ; K. Hegenscheid ; A. Heinz ; D. G. Hernandez ; D. J. Heslenfeld ; P. J. Hoekstra ; F. Holsboer ; G. Homuth ; J. J. Hottenga ; M. Ikeda ; C. R. Jack, Jr. ; M. Jenkinson ; R. Johnson ; R. Kanai ; M. Keil ; J. W. Kent, Jr. ; P. Kochunov ; J. B. Kwok ; S. M. Lawrie ; X. Liu ; D. L. Longo ; K. L. McMahon ; E. Meisenzahl ; I. Melle ; S. Mohnke ; G. W. Montgomery ; J. C. Mostert ; T. W. Muhleisen ; M. A. Nalls ; T. E. Nichols ; L. G. Nilsson ; M. M. Nothen ; K. Ohi ; R. L. Olvera ; R. Perez-Iglesias ; G. B. Pike ; S. G. Potkin ; I. Reinvang ; S. Reppermund ; M. Rietschel ; N. Romanczuk-Seiferth ; G. D. Rosen ; D. Rujescu ; K. Schnell ; P. R. Schofield ; C. Smith ; V. M. Steen ; J. E. Sussmann ; A. Thalamuthu ; A. W. Toga ; B. J. Traynor ; J. Troncoso ; J. A. Turner ; M. C. Valdes Hernandez ; D. van 't Ent ; M. van der Brug ; N. J. van der Wee ; M. J. van Tol ; D. J. Veltman ; T. H. Wassink ; E. Westman ; R. H. Zielke ; A. B. Zonderman ; D. G. Ashbrook ; R. Hager ; L. Lu ; F. J. McMahon ; D. W. Morris ; R. W. Williams ; H. G. Brunner ; R. L. Buckner ; J. K. Buitelaar ; W. Cahn ; V. D. Calhoun ; G. L. Cavalleri ; B. Crespo-Facorro ; A. M. Dale ; G. E. Davies ; N. Delanty ; C. Depondt ; S. Djurovic ; W. C. Drevets ; T. Espeseth ; R. L. Gollub ; B. C. Ho ; W. Hoffmann ; N. Hosten ; R. S. Kahn ; S. Le Hellard ; A. Meyer-Lindenberg ; B. Muller-Myhsok ; M. Nauck ; L. Nyberg ; M. Pandolfo ; B. W. Penninx ; J. L. Roffman ; S. M. Sisodiya ; J. W. Smoller ; H. van Bokhoven ; N. E. van Haren ; H. Volzke ; H. Walter ; M. W. Weiner ; W. Wen ; T. White ; I. Agartz ; O. A. Andreassen ; J. Blangero ; D. I. Boomsma ; R. M. Brouwer ; D. M. Cannon ; M. R. Cookson ; E. J. de Geus ; I. J. Deary ; G. Donohoe ; G. Fernandez ; S. E. Fisher ; C. Francks ; D. C. Glahn ; H. J. Grabe ; O. Gruber ; J. Hardy ; R. Hashimoto ; H. E. Hulshoff Pol ; E. G. Jonsson ; I. Kloszewska ; S. Lovestone ; V. S. Mattay ; P. Mecocci ; C. McDonald ; A. M. McIntosh ; R. A. Ophoff ; T. Paus ; Z. Pausova ; M. Ryten ; P. S. Sachdev ; A. J. Saykin ; A. Simmons ; A. Singleton ; H. Soininen ; J. M. Wardlaw ; M. E. Weale ; D. R. Weinberger ; H. H. Adams ; L. J. Launer ; S. Seiler ; R. Schmidt ; G. Chauhan ; C. L. Satizabal ; J. T. Becker ; L. Yanek ; S. J. van der Lee ; M. Ebling ; B. Fischl ; W. T. Longstreth, Jr. ; D. Greve ; H. Schmidt ; P. Nyquist ; L. N. Vinke ; C. M. van Duijn ; L. Xue ; B. Mazoyer ; J. C. Bis ; V. Gudnason ; S. Seshadri ; M. A. Ikram ; N. G. Martin ; M. J. Wright ; G. Schumann ; B. Franke ; P. M. Thompson ; S. E. Medland
Nature Publishing Group (NPG)
Published 2015Staff ViewPublication Date: 2015-01-22Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adolescent ; Adult ; Aged ; Aged, 80 and over ; Aging/genetics ; Apoptosis/genetics ; Brain/*anatomy & histology ; Caudate Nucleus/anatomy & histology ; Child ; Female ; Gene Expression Regulation, Developmental/genetics ; Genetic Loci/genetics ; Genetic Variation/*genetics ; *Genome-Wide Association Study ; Hippocampus/anatomy & histology ; Humans ; Magnetic Resonance Imaging ; Male ; Membrane Proteins/genetics ; Middle Aged ; Organ Size/genetics ; Putamen/anatomy & histology ; Sex Characteristics ; Skull/anatomy & histology ; Young AdultPublished by: -
4Staff View
Publication Date: 2018-01-25Publisher: BMJ Publishing GroupPrint ISSN: 0022-2593Electronic ISSN: 1468-6244Topics: MedicineKeywords: Open accessPublished by: -
5Oost, B. A. ; Zandvoort, P. M. ; Tünte, W. ; Brunner, H. G. ; Hoogeboom, A. J. M. ; Maaswinkel-Mooy, P. D. ; Bakkeren, J. ; Hamel, B. ; Ropers, H. H.
Springer
Published 1991Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis.Type of Medium: Electronic ResourceURL: -
6Staff View
ISSN: 1432-1076Keywords: Frontonasal dysplasia ; Craniosynostosis ; Genetics ; X chromosome ; Psychomotor developmentSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract We report on nine patients with craniofrontonasal dysplasia (CFND). Seven classical cases had facial features suggestive of frontonasal dysplasia and coronal craniosynostosis. Extracranial abnormalities such as brittle nails with prominent longitudinal grooves or syndactyly of fingers and toes were observed in individual patients. In two families the father of classical cases showed a milder pattern of abnormalities, consistent with the diagnosis. We present a 2- to 13-year follow-up on our patients. Hypotonia and laxity of joints are common and may necessitate supportive measures. Mild developmental delay was noted in three out of six classical cases studied in detail. Unlike almost all other X-linked disorders, clinical expression in CFND is generally much more severe in females than in males. In contrast to previous reports of this condition, one of our severely affected cases is a male.Type of Medium: Electronic ResourceURL: -
7Brunner, H. G. ; Korneluk, R. G. ; Coerwinkel-Driessen, M. ; MacKenzie, A. ; Smeets, H. ; Lambermon, H. M. M. ; Oost, B. A. ; Wieringa, B. ; Ropers, H. -H.
Springer
Published 1989Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary We have studied genetic linkage between the gene for creatine kinase muscle type (CKMM) and the gene for myotonic dystrophy (DM). In a panel of 65 myotonic dystrophy families from Canada and the Netherlands, a maximum lod score (Zmax) of 22.8 at a recombination frequency (Θ) of 0.03 was obtained. Tight linkage was also demonstrated for CKMM and the gene for apolipoprotein C2 (ApoC2). This establishes CKMM as a useful marker for myotonic dystrophy.Type of Medium: Electronic ResourceURL: -
8Abeling, N. G. G. M. ; Gennip, A. H. ; Overmars, H. ; Oost, B. A. ; Brunner, H. G.
Springer
Published 1994Staff ViewISSN: 1573-2665Source: Springer Online Journal Archives 1860-2000Topics: MedicineType of Medium: Electronic ResourceURL: