Luba Kalaydjieva

Luba Kalaydjieva

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Luba Kalaydjieva

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A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Neurology 2018 07 27;91(4):e339-e348. Epub 2018 Jun 27.

From the Unidad de Enfermedades Neuromusculares, Department of Neurology (M.C.-S., C.P.), Instituto de Biomedicina de Sevilla (IBiS) (M.C.-S., F.M., C.P.), and Department of Pathology, Neuropathology Unit (E.R.), Hospital Universitario Virgen del Rocío, Sevilla, Spain; Laboratoire Diagnostic Génétique (V.B.), Faculté de Médecine-CHRU, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (V.B., R.Á., J.L.), Illkirch, France; Harry Perkins Institute of Medical Research and Centre for Medical Research (B.M., N.G.L., L.K.), University of Western Australia, Nedlands; Department of Pathology (Neuropathology) (A.H.-L.), Hospital Universitario 12 de Octubre, Madrid Research Institute; Neuropathology Unit (M.O.), Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Department of Neurology and IIS La Fe (N.M., J.J.V.), Hospital Universitari i Politècnic La Fe, Valencia; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (N.M., J.D.-M., J.J.V.); Department of Neurology (E.K.), Consulta de Enfermedades Neuromusculares y Unidad de ELA, Hospital General Universitario Santa Lucía, Cartagena, Murcia; Department of Neurology (A.C.), Hospital Virgen de las Nieves, Granada; Department of Neurology (P.Q.), Hospital Torrecárdenas, Almería; Unidad de Enfermedades Neuromusculares (J.D.-M.), Department of Neurology, Universidad Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Perth, Australia; Department of Neurology (C.D.), Hospital 12 de Octubre, Madrid, Spain; Unité de Morphologie Neuromusculaire (N.B.R.), Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris; Université Sorbonne (N.B.R.), UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Medicine (J.J.V.), Universitat de Valencia; Department of Experimental and Health Sciences (D.C.), Institute of Evolutionary Biology (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain; Centre National de la Recherche Scientifique (J.L.), UMR7104, Illkirch; and Institut National de la Santé et de la Recherche Médicale (J.L.), U964, Illkirch, France.

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http://dx.doi.org/10.1212/WNL.0000000000005862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070382PMC
July 2018

founder mutation in the Roma population causes recessive variant of H-ABC.

Neurology 2017 Oct 20;89(17):1821-1828. Epub 2017 Sep 20.

From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664304PMC
October 2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Authors:
Christian R Marshall Daniel P Howrigan Daniele Merico Bhooma Thiruvahindrapuram Wenting Wu Douglas S Greer Danny Antaki Aniket Shetty Peter A Holmans Dalila Pinto Madhusudan Gujral William M Brandler Dheeraj Malhotra Zhouzhi Wang Karin V Fuentes Fajarado Michelle S Maile Stephan Ripke Ingrid Agartz Margot Albus Madeline Alexander Farooq Amin Joshua Atkins Silviu A Bacanu Richard A Belliveau Sarah E Bergen Marcelo Bertalan Elizabeth Bevilacqua Tim B Bigdeli Donald W Black Richard Bruggeman Nancy G Buccola Randy L Buckner Brendan Bulik-Sullivan William Byerley Wiepke Cahn Guiqing Cai Murray J Cairns Dominique Campion Rita M Cantor Vaughan J Carr Noa Carrera Stanley V Catts Kimberley D Chambert Wei Cheng C Robert Cloninger David Cohen Paul Cormican Nick Craddock Benedicto Crespo-Facorro James J Crowley David Curtis Michael Davidson Kenneth L Davis Franziska Degenhardt Jurgen Del Favero Lynn E DeLisi Dimitris Dikeos Timothy Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Peter Eichhammer Johan Eriksson Valentina Escott-Price Laurent Essioux Ayman H Fanous Kai-How Farh Martilias S Farrell Josef Frank Lude Franke Robert Freedman Nelson B Freimer Joseph I Friedman Andreas J Forstner Menachem Fromer Giulio Genovese Lyudmila Georgieva Elliot S Gershon Ina Giegling Paola Giusti-Rodríguez Stephanie Godard Jacqueline I Goldstein Jacob Gratten Lieuwe de Haan Marian L Hamshere Mark Hansen Thomas Hansen Vahram Haroutunian Annette M Hartmann Frans A Henskens Stefan Herms Joel N Hirschhorn Per Hoffmann Andrea Hofman Hailiang Huang Masashi Ikeda Inge Joa Anna K Kähler René S Kahn Luba Kalaydjieva Juha Karjalainen David Kavanagh Matthew C Keller Brian J Kelly James L Kennedy Yunjung Kim James A Knowles Bettina Konte Claudine Laurent Phil Lee S Hong Lee Sophie E Legge Bernard Lerer Deborah L Levy Kung-Yee Liang Jeffrey Lieberman Jouko Lönnqvist Carmel M Loughland Patrik K E Magnusson Brion S Maher Wolfgang Maier Jacques Mallet Manuel Mattheisen Morten Mattingsdal Robert W McCarley Colm McDonald Andrew M McIntosh Sandra Meier Carin J Meijer Ingrid Melle Raquelle I Mesholam-Gately Andres Metspalu Patricia T Michie Lili Milani Vihra Milanova Younes Mokrab Derek W Morris Bertram Müller-Myhsok Kieran C Murphy Robin M Murray Inez Myin-Germeys Igor Nenadic Deborah A Nertney Gerald Nestadt Kristin K Nicodemus Laura Nisenbaum Annelie Nordin Eadbhard O'Callaghan Colm O'Dushlaine Sang-Yun Oh Ann Olincy Line Olsen F Anthony O'Neill Jim Van Os Christos Pantelis George N Papadimitriou Elena Parkhomenko Michele T Pato Tiina Paunio Diana O Perkins Tune H Pers Olli Pietiläinen Jonathan Pimm Andrew J Pocklington John Powell Alkes Price Ann E Pulver Shaun M Purcell Digby Quested Henrik B Rasmussen Abraham Reichenberg Mark A Reimers Alexander L Richards Joshua L Roffman Panos Roussos Douglas M Ruderfer Veikko Salomaa Alan R Sanders Adam Savitz Ulrich Schall Thomas G Schulze Sibylle G Schwab Edward M Scolnick Rodney J Scott Larry J Seidman Jianxin Shi Jeremy M Silverman Jordan W Smoller Erik Söderman Chris C A Spencer Eli A Stahl Eric Strengman Jana Strohmaier T Scott Stroup Jaana Suvisaari Dragan M Svrakic Jin P Szatkiewicz Srinivas Thirumalai Paul A Tooney Juha Veijola Peter M Visscher John Waddington Dermot Walsh Bradley T Webb Mark Weiser Dieter B Wildenauer Nigel M Williams Stephanie Williams Stephanie H Witt Aaron R Wolen Brandon K Wormley Naomi R Wray Jing Qin Wu Clement C Zai Rolf Adolfsson Ole A Andreassen Douglas H R Blackwood Elvira Bramon Joseph D Buxbaum Sven Cichon David A Collier Aiden Corvin Mark J Daly Ariel Darvasi Enrico Domenici Tõnu Esko Pablo V Gejman Michael Gill Hugh Gurling Christina M Hultman Nakao Iwata Assen V Jablensky Erik G Jönsson Kenneth S Kendler George Kirov Jo Knight Douglas F Levinson Qingqin S Li Steven A McCarroll Andrew McQuillin Jennifer L Moran Bryan J Mowry Markus M Nöthen Roel A Ophoff Michael J Owen Aarno Palotie Carlos N Pato Tracey L Petryshen Danielle Posthuma Marcella Rietschel Brien P Riley Dan Rujescu Pamela Sklar David St Clair James T R Walters Thomas Werge Patrick F Sullivan Michael C O'Donovan Stephen W Scherer Benjamin M Neale Jonathan Sebat

Nat Genet 2017 01 21;49(1):27-35. Epub 2016 Nov 21.

Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1038/ng.3725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737772PMC
January 2017

The AQP1 del601G mutation in different European Romani (Gypsy) populations.

Blood Transfus 2016 11 11;14(6):580-581. Epub 2016 May 11.

Harry Perkins Institute of Medical Research, The University of Western Australia, Nedlands, WA, Australia.

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http://dx.doi.org/10.2450/2016.0274-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111389PMC
November 2016

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.

Hum Mol Genet 2016 10 9;25(19):4302-4314. Epub 2016 Aug 9.

Harry Perkins Institute of Medical Research and Centre for Medical Research, Level 7, QQ Block, QEII Medical Centre, 6 Verdun Street, and School of Chemistry and Biochemistry, The University of Western Australia, Crawley, WA 6009, Australia,

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http://dx.doi.org/10.1093/hmg/ddw263DOI Listing
October 2016

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.

Behav Neurol 2015 28;2015:639539. Epub 2015 Apr 28.

Clinic of Neurology, University Hospital "Alexandrovska", 1431 Sofia, Bulgaria ; Department of Cognitive Science and Psychology, New Bulgarian University, 1618 Sofia, Bulgaria.

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http://dx.doi.org/10.1155/2015/639539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427823PMC
March 2016

Reply: Mutations in TUBB4A and spastic paraplegia.

Mov Disord 2015 Nov 19;30(13):1858-9. Epub 2015 Oct 19.

Medical University of Sofia, Faculty of Medicine, Department of Neurology, Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria.

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http://dx.doi.org/10.1002/mds.26442DOI Listing
November 2015

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

Neuromuscul Disord 2015 Sep 13;25(9):713-8. Epub 2015 Jul 13.

Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2015.07.004DOI Listing
September 2015

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

Mov Disord 2015 May 15;30(6):854-8. Epub 2015 Mar 15.

Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/mds.26196DOI Listing
May 2015

Long-term follow-up in patients with CCFDN syndrome.

Neurology 2014 Oct 3;83(15):1337-44. Epub 2014 Sep 3.

From the Friedrich-Baur Institute (M.C.W.), Department of Neurology, Ludwig-Maximilians University of Munich, Germany; Gottfried von Preyer'sches Kinderspital (G.B.), Vienna; Ambulatorium Wiental (U.Z.), Center for Developmental Neurology, Vienna; Department of Ophthalmology (A.M.-E., E.M.), University of Vienna, Austria; Harry Perkins Institute for Medical Research and Centre for Medical Research (L.K.), The University of Western Australia, Perth; Institute of Genetic Medicine (H.L.), Newcastle University, Newcastle-upon-Tyne, UK; and Department of Neuropaediatrics (W.M.-F.), Dr. von Hauner'sches Kinderspital, University of Munich, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000874DOI Listing
October 2014

The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D.

F1000Res 2013 13;2:46. Epub 2013 Feb 13.

Western Australian Institute for Medical Research and Centre for Diabetes Research, University of Western Australia, Perth, 6000, Australia ; Centre for Medical Research, University of Western Australia, Perth, 6000, Australia ; The Walter and Eliza Hall Institute of Medical Research, Victoria, 3065, Australia.

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http://dx.doi.org/10.12688/f1000research.2-46.v1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976107PMC
April 2014

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.

Biol Psychiatry 2014 Mar 17;75(5):386-97. Epub 2013 Jul 17.

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http://dx.doi.org/10.1016/j.biopsych.2013.03.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923972PMC
March 2014

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Am J Hum Genet 2014 Feb 16;94(2):288-94. Epub 2014 Jan 16.

Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928807PMC
February 2014

Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

Authors:
Stephan Ripke Colm O'Dushlaine Kimberly Chambert Jennifer L Moran Anna K Kähler Susanne Akterin Sarah E Bergen Ann L Collins James J Crowley Menachem Fromer Yunjung Kim Sang Hong Lee Patrik K E Magnusson Nick Sanchez Eli A Stahl Stephanie Williams Naomi R Wray Kai Xia Francesco Bettella Anders D Borglum Brendan K Bulik-Sullivan Paul Cormican Nick Craddock Christiaan de Leeuw Naser Durmishi Michael Gill Vera Golimbet Marian L Hamshere Peter Holmans David M Hougaard Kenneth S Kendler Kuang Lin Derek W Morris Ole Mors Preben B Mortensen Benjamin M Neale Francis A O'Neill Michael J Owen Milica Pejovic Milovancevic Danielle Posthuma John Powell Alexander L Richards Brien P Riley Douglas Ruderfer Dan Rujescu Engilbert Sigurdsson Teimuraz Silagadze August B Smit Hreinn Stefansson Stacy Steinberg Jaana Suvisaari Sarah Tosato Matthijs Verhage James T Walters Douglas F Levinson Pablo V Gejman Kenneth S Kendler Claudine Laurent Bryan J Mowry Michael C O'Donovan Michael J Owen Ann E Pulver Brien P Riley Sibylle G Schwab Dieter B Wildenauer Frank Dudbridge Peter Holmans Jianxin Shi Margot Albus Madeline Alexander Dominique Campion David Cohen Dimitris Dikeos Jubao Duan Peter Eichhammer Stephanie Godard Mark Hansen F Bernard Lerer Kung-Yee Liang Wolfgang Maier Jacques Mallet Deborah A Nertney Gerald Nestadt Nadine Norton Francis A O'Neill George N Papadimitriou Robert Ribble Alan R Sanders Jeremy M Silverman Dermot Walsh Nigel M Williams Brandon Wormley Maria J Arranz Steven Bakker Stephan Bender Elvira Bramon David Collier Benedicto Crespo-Facorro Jeremy Hall Conrad Iyegbe Assen Jablensky Rene S Kahn Luba Kalaydjieva Stephen Lawrie Cathryn M Lewis Kuang Lin Don H Linszen Ignacio Mata Andrew McIntosh Robin M Murray Roel A Ophoff John Powell Dan Rujescu Jim Van Os Muriel Walshe Matthias Weisbrod Durk Wiersma Peter Donnelly Ines Barroso Jenefer M Blackwell Elvira Bramon Matthew A Brown Juan P Casas Aiden P Corvin Panos Deloukas Audrey Duncanson Janusz Jankowski Hugh S Markus Christopher G Mathew Colin N A Palmer Robert Plomin Anna Rautanen Stephen J Sawcer Richard C Trembath Ananth C Viswanathan Nicholas W Wood Chris C A Spencer Gavin Band Céline Bellenguez Colin Freeman Garrett Hellenthal Eleni Giannoulatou Matti Pirinen Richard D Pearson Amy Strange Zhan Su Damjan Vukcevic Peter Donnelly Cordelia Langford Sarah E Hunt Sarah Edkins Rhian Gwilliam Hannah Blackburn Suzannah J Bumpstead Serge Dronov Matthew Gillman Emma Gray Naomi Hammond Alagurevathi Jayakumar Owen T McCann Jennifer Liddle Simon C Potter Radhi Ravindrarajah Michelle Ricketts Avazeh Tashakkori-Ghanbaria Matthew J Waller Paul Weston Sara Widaa Pamela Whittaker Ines Barroso Panos Deloukas Christopher G Mathew Jenefer M Blackwell Matthew A Brown Aiden P Corvin Mark I McCarthy Chris C A Spencer Elvira Bramon Aiden P Corvin Michael C O'Donovan Kari Stefansson Edward Scolnick Shaun Purcell Steven A McCarroll Pamela Sklar Christina M Hultman Patrick F Sullivan

Nat Genet 2013 Oct 25;45(10):1150-9. Epub 2013 Aug 25.

1] Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [3].

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http://dx.doi.org/10.1038/ng.2742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827979PMC
October 2013

Challenges of diagnostic exome sequencing in an inbred founder population.

Mol Genet Genomic Med 2013 Jul 22;1(2):71-6. Epub 2013 Apr 22.

Laboratory for Molecular Genetics, Centre for Medical Research/Western Australian Institute for Medical Research, The University of Western Australia Perth, WA, Australia.

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http://dx.doi.org/10.1002/mgg3.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865571PMC
July 2013

Deleterious GRM1 mutations in schizophrenia.

PLoS One 2012 20;7(3):e32849. Epub 2012 Mar 20.

Western Australian Institute for Medical Research/UWA Centre for Medical Research, University of Western Australia, Perth, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0032849PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308973PMC
August 2012

Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia.

Am J Med Genet B Neuropsychiatr Genet 2012 Jun 14;159B(4):392-404. Epub 2012 Mar 14.

Centre for Medical Research, Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

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http://doi.wiley.com/10.1002/ajmg.b.32042
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http://dx.doi.org/10.1002/ajmg.b.32042DOI Listing
June 2012

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.

J Neurol 2012 May 19;259(5):906-11. Epub 2011 Oct 19.

Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria.

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http://dx.doi.org/10.1007/s00415-011-6276-6DOI Listing
May 2012

A novel GEFS+ locus on 12p13.33 in a large Roma family.

Epilepsy Res 2011 Nov 13;97(1-2):198-207. Epub 2011 Sep 13.

Centre for Medical Research/Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2011.08.009DOI Listing
November 2011

Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3.

Epilepsy Res 2011 Sep 8;96(1-2):101-8. Epub 2011 Jun 8.

Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, QEII Medical Centre, B block, Nedlands, WA 6009, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2011.05.006DOI Listing
September 2011

Ndrg1 in development and maintenance of the myelin sheath.

Neurobiol Dis 2011 Jun 12;42(3):368-80. Epub 2011 Feb 12.

Department of Clinical Neurosciences, Institute of Neurology, UCL, London NW3 2PF, UK.

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http://dx.doi.org/10.1016/j.nbd.2011.01.030DOI Listing
June 2011

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

Am J Med Genet B Neuropsychiatr Genet 2011 Mar 13;156(2):204-14. Epub 2011 Jan 13.

SA Pathology, Women's and Children's Hospital, Adelaide, South Australia 5006, Australia.

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http://doi.wiley.com/10.1002/ajmg.b.31157
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http://dx.doi.org/10.1002/ajmg.b.31157DOI Listing
March 2011

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.

Epileptic Disord 2010 Jun;12(2):117-24

Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1684/epd.2010.0311DOI Listing
June 2010

Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia.

Am J Med Genet B Neuropsychiatr Genet 2010 Mar;153B(2):428-437

Centre for Clinical Research in Neuropsychiatry and School of Psychiatry and Clinical Neurosciences, Graylands Hospital, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1002/ajmg.b.30996DOI Listing
March 2010

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

Eur J Hum Genet 2009 Dec 17;17(12):1606-14. Epub 2009 Jun 17.

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1038/ejhg.2009.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987011PMC
December 2009

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.

Epilepsia 2009 Jul 23;50(7):1679-88. Epub 2009 Mar 23.

Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02066.xDOI Listing
July 2009

Comprehensive analysis of tagging sequence variants in DTNBP1 shows no association with schizophrenia or with its composite neurocognitive endophenotypes.

Am J Med Genet B Neuropsychiatr Genet 2008 Oct;147B(7):1159-66

Laboratory for Molecular Genetics, Western Australian Institute for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.b.30741DOI Listing
October 2008

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.

Genet Test 2007 ;11(4):455-8

Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1089/gte.2007.0048DOI Listing
May 2008

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.

Mol Immunol 2008 Jan 20;45(2):479-84. Epub 2007 Jul 20.

Servicio de Inmunología, Hospital Universitario 12 de Octubre, Avda Córdoba s/n, 28041 Madrid, Spain.

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http://dx.doi.org/10.1016/j.molimm.2007.05.022DOI Listing
January 2008

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.

Eur J Pediatr 2007 Jul 30;166(7):747-9. Epub 2006 Dec 30.

Department of Neurology, P & A Kyriakou Children's Hospital, Thivon and Levadeias str, 115 27 Athens, Greece.

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http://dx.doi.org/10.1007/s00431-006-0307-9DOI Listing
July 2007

Congenital cataracts-facial dysmorphism-neuropathy.

Authors:
Luba Kalaydjieva

Orphanet J Rare Dis 2006 Aug 29;1:32. Epub 2006 Aug 29.

Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Hospital Avenue, WA 6009 Nedlands, Australia.

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http://dx.doi.org/10.1186/1750-1172-1-32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1563997PMC
August 2006

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population.

Mol Genet Metab 2006 May 8;88(1):93-5. Epub 2006 Feb 8.

Laboratory of Molecular Pathology, Medical University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.ymgme.2005.12.009DOI Listing
May 2006

A newly discovered founder population: the Roma/Gypsies.

Bioessays 2005 Oct;27(10):1084-94

Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Perth, Australia.

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http://dx.doi.org/10.1002/bies.20287DOI Listing
October 2005

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24.

Biochem Biophys Res Commun 2005 Jul;332(4):982-92

Laboratory for Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands 6009, Australia.

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http://dx.doi.org/10.1016/j.bbrc.2005.05.050DOI Listing
July 2005

Mutation history of the roma/gypsies.

Am J Hum Genet 2004 Oct 20;75(4):596-609. Epub 2004 Aug 20.

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and UWA Centre for Medical Research, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1086/424759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182047PMC
October 2004

Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.

Ophthalmology 2004 Jul;111(7):1415-23

Department of Ophthalmology, University Hospital of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1016/j.ophtha.2003.11.007DOI Listing
July 2004

Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map.

Neuromuscul Disord 2003 Nov;13(9):729-36

Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1016/s0960-8966(03)00098-1DOI Listing
November 2003

Detecting population growth, selection and inherited fertility from haplotypic data in humans.

Genetics 2003 Nov;165(3):1579-86

Laboratoire Ecologie, Systématique et Evolution, Université Paris-Sud, F-91405 Orsay, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1462861PMC
November 2003

Autoimmunoreactivity to Schwann cells in patients with inflammatory neuropathies.

Brain 2003 Feb;126(Pt 2):361-75

Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/brain/awg030DOI Listing
February 2003

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.

Nat Genet 2002 Jul 24;31(3):272-5. Epub 2002 Jun 24.

Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.

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http://dx.doi.org/10.1038/ng918DOI Listing
July 2002

Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary.

Neuromuscul Disord 2002 May;12(4):378-85

Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/s0960-8966(01)00283-8DOI Listing
May 2002