Antonio Cao

Antonio Cao

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Antonio Cao

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The prevention of thalassemia.

Cold Spring Harb Perspect Med 2013 Feb 1;3(2):a011775. Epub 2013 Feb 1.

Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Via Jenner snc 09121 Cagliari, Sardinia, Italy.

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http://dx.doi.org/10.1101/cshperspect.a011775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552345PMC
February 2013

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.

Authors:
Zari Dastani Marie-France Hivert Nicholas Timpson John R B Perry Xin Yuan Robert A Scott Peter Henneman Iris M Heid Jorge R Kizer Leo-Pekka Lyytikäinen Christian Fuchsberger Toshiko Tanaka Andrew P Morris Kerrin Small Aaron Isaacs Marian Beekman Stefan Coassin Kurt Lohman Lu Qi Stavroula Kanoni James S Pankow Hae-Won Uh Ying Wu Aurelian Bidulescu Laura J Rasmussen-Torvik Celia M T Greenwood Martin Ladouceur Jonna Grimsby Alisa K Manning Ching-Ti Liu Jaspal Kooner Vincent E Mooser Peter Vollenweider Karen A Kapur John Chambers Nicholas J Wareham Claudia Langenberg Rune Frants Ko Willems-Vandijk Ben A Oostra Sara M Willems Claudia Lamina Thomas W Winkler Bruce M Psaty Russell P Tracy Jennifer Brody Ida Chen Jorma Viikari Mika Kähönen Peter P Pramstaller David M Evans Beate St Pourcain Naveed Sattar Andrew R Wood Stefania Bandinelli Olga D Carlson Josephine M Egan Stefan Böhringer Diana van Heemst Lyudmyla Kedenko Kati Kristiansson Marja-Liisa Nuotio Britt-Marie Loo Tamara Harris Melissa Garcia Alka Kanaya Margot Haun Norman Klopp H-Erich Wichmann Panos Deloukas Efi Katsareli David J Couper Bruce B Duncan Margreet Kloppenburg Linda S Adair Judith B Borja James G Wilson Solomon Musani Xiuqing Guo Toby Johnson Robert Semple Tanya M Teslovich Matthew A Allison Susan Redline Sarah G Buxbaum Karen L Mohlke Ingrid Meulenbelt Christie M Ballantyne George V Dedoussis Frank B Hu Yongmei Liu Bernhard Paulweber Timothy D Spector P Eline Slagboom Luigi Ferrucci Antti Jula Markus Perola Olli Raitakari Jose C Florez Veikko Salomaa Johan G Eriksson Timothy M Frayling Andrew A Hicks Terho Lehtimäki George Davey Smith David S Siscovick Florian Kronenberg Cornelia van Duijn Ruth J F Loos Dawn M Waterworth James B Meigs Josee Dupuis J Brent Richards Benjamin F Voight Laura J Scott Valgerdur Steinthorsdottir Christian Dina Ryan P Welch Eleftheria Zeggini Cornelia Huth Yurii S Aulchenko Gudmar Thorleifsson Laura J McCulloch Teresa Ferreira Harald Grallert Najaf Amin Guanming Wu Cristen J Willer Soumya Raychaudhuri Steve A McCarroll Oliver M Hofmann Ayellet V Segrè Mandy van Hoek Pau Navarro Kristin Ardlie Beverley Balkau Rafn Benediktsson Amanda J Bennett Roza Blagieva Eric Boerwinkle Lori L Bonnycastle Kristina Bengtsson Boström Bert Bravenboer Suzannah Bumpstead Noël P Burtt Guillaume Charpentier Peter S Chines Marilyn Cornelis Gabe Crawford Alex S F Doney Katherine S Elliott Amanda L Elliott Michael R Erdos Caroline S Fox Christopher S Franklin Martha Ganser Christian Gieger Niels Grarup Todd Green Simon Griffin Christopher J Groves Candace Guiducci Samy Hadjadj Neelam Hassanali Christian Herder Bo Isomaa Anne U Jackson Paul R V Johnson Torben Jørgensen Wen H L Kao Augustine Kong Peter Kraft Johanna Kuusisto Torsten Lauritzen Man Li Aloysius Lieverse Cecilia M Lindgren Valeriya Lyssenko Michel Marre Thomas Meitinger Kristian Midthjell Mario A Morken Narisu Narisu Peter Nilsson Katharine R Owen Felicity Payne Ann-Kristin Petersen Carl Platou Christine Proença Inga Prokopenko Wolfgang Rathmann N William Rayner Neil R Robertson Ghislain Rocheleau Michael Roden Michael J Sampson Richa Saxena Beverley M Shields Peter Shrader Gunnar Sigurdsson Thomas Sparsø Klaus Strassburger Heather M Stringham Qi Sun Amy J Swift Barbara Thorand Jean Tichet Tiinamaija Tuomi Rob M van Dam Timon W van Haeften Thijs van Herpt Jana V van Vliet-Ostaptchouk G Bragi Walters Michael N Weedon Cisca Wijmenga Jacqueline Witteman Richard N Bergman Stephane Cauchi Francis S Collins Anna L Gloyn Ulf Gyllensten Torben Hansen Winston A Hide Graham A Hitman Albert Hofman David J Hunter Kristian Hveem Markku Laakso Andrew D Morris Colin N A Palmer Igor Rudan Eric Sijbrands Lincoln D Stein Jaakko Tuomilehto Andre Uitterlinden Mark Walker Richard M Watanabe Goncalo R Abecasis Bernhard O Boehm Harry Campbell Mark J Daly Andrew T Hattersley Oluf Pedersen Inês Barroso Leif Groop Rob Sladek Unnur Thorsteinsdottir James F Wilson Thomas Illig Philippe Froguel Cornelia M van Duijn Kari Stefansson David Altshuler Michael Boehnke Mark I McCarthy Nicole Soranzo Eleanor Wheeler Nicole L Glazer Nabila Bouatia-Naji Reedik Mägi Joshua Randall Paul Elliott Denis Rybin Abbas Dehghan Jouke Jan Hottenga Kijoung Song Anuj Goel Taina Lajunen Alex Doney Christine Cavalcanti-Proença Meena Kumari Nicholas J Timpson Carina Zabena Erik Ingelsson Ping An Jeffrey O'Connell Jian'an Luan Amanda Elliott Steven A McCarroll Rosa Maria Roccasecca François Pattou Praveen Sethupathy Yavuz Ariyurek Philip Barter John P Beilby Yoav Ben-Shlomo Sven Bergmann Murielle Bochud Amélie Bonnefond Knut Borch-Johnsen Yvonne Böttcher Eric Brunner Suzannah J Bumpstead Yii-Der Ida Chen Peter Chines Robert Clarke Lachlan J M Coin Matthew N Cooper Laura Crisponi Ian N M Day Eco J C de Geus Jerome Delplanque Annette C Fedson Antje Fischer-Rosinsky Nita G Forouhi Maria Grazia Franzosi Pilar Galan Mark O Goodarzi Jürgen Graessler Scott Grundy Rhian Gwilliam Göran Hallmans Naomi Hammond Xijing Han Anna-Liisa Hartikainen Caroline Hayward Simon C Heath Serge Hercberg David R Hillman Aroon D Hingorani Jennie Hui Joe Hung Marika Kaakinen Jaakko Kaprio Y Antero Kesaniemi Mika Kivimaki Beatrice Knight Seppo Koskinen Peter Kovacs Kirsten Ohm Kyvik G Mark Lathrop Debbie A Lawlor Olivier Le Bacquer Cécile Lecoeur Yun Li Robert Mahley Massimo Mangino María Teresa Martínez-Larrad Jarred B McAteer Ruth McPherson Christa Meisinger David Melzer David Meyre Braxton D Mitchell Sutapa Mukherjee Silvia Naitza Matthew J Neville Marco Orrù Ruth Pakyz Giuseppe Paolisso Cristian Pattaro Daniel Pearson John F Peden Nancy L Pedersen Andreas F H Pfeiffer Irene Pichler Ozren Polasek Danielle Posthuma Simon C Potter Anneli Pouta Michael A Province Nigel W Rayner Kenneth Rice Samuli Ripatti Fernando Rivadeneira Olov Rolandsson Annelli Sandbaek Manjinder Sandhu Serena Sanna Avan Aihie Sayer Paul Scheet Udo Seedorf Stephen J Sharp Beverley Shields Gunnar Sigurðsson Eric J G Sijbrands Angela Silveira Laila Simpson Andrew Singleton Nicholas L Smith Ulla Sovio Amy Swift Holly Syddall Ann-Christine Syvänen Anke Tönjes André G Uitterlinden Ko Willems van Dijk Dhiraj Varma Sophie Visvikis-Siest Veronique Vitart Nicole Vogelzangs Gérard Waeber Peter J Wagner Andrew Walley Kim L Ward Hugh Watkins Sarah H Wild Gonneke Willemsen Jaqueline C M Witteman John W G Yarnell Diana Zelenika Björn Zethelius Guangju Zhai Jing Hua Zhao M Carola Zillikens Ingrid B Borecki Pierre Meneton Patrik K E Magnusson David M Nathan Gordon H Williams Kaisa Silander Stefan R Bornstein Peter Schwarz Joachim Spranger Fredrik Karpe Alan R Shuldiner Cyrus Cooper Manuel Serrano-Ríos Lars Lind Lyle J Palmer Frank B Hu Paul W Franks Shah Ebrahim Michael Marmot W H Linda Kao Peter Paul Pramstaller Alan F Wright Michael Stumvoll Anders Hamsten Thomas A Buchanan Timo T Valle Jerome I Rotter Brenda W J H Penninx Dorret I Boomsma Antonio Cao Angelo Scuteri David Schlessinger Manuela Uda Aimo Ruokonen Marjo-Riitta Jarvelin Leena Peltonen Vincent Mooser Robert Sladek Kiran Musunuru Albert V Smith Andrew C Edmondson Ioannis M Stylianou Masahiro Koseki James P Pirruccello Daniel I Chasman Christopher T Johansen Sigrid W Fouchier Gina M Peloso Maja Barbalic Sally L Ricketts Joshua C Bis Mary F Feitosa Marju Orho-Melander Olle Melander Xiaohui Li Mingyao Li Yoon Shin Cho Min Jin Go Young Jin Kim Jong-Young Lee Taesung Park Kyunga Kim Xueling Sim Rick Twee-Hee Ong Damien C Croteau-Chonka Leslie A Lange Joshua D Smith Andreas Ziegler Weihua Zhang Robert Y L Zee John B Whitfield John R Thompson Ida Surakka Tim D Spector Johannes H Smit Juha Sinisalo James Scott Juha Saharinen Chiara Sabatti Lynda M Rose Robert Roberts Mark Rieder Alex N Parker Guillaume Pare Christopher J O'Donnell Markku S Nieminen Deborah A Nickerson Grant W Montgomery Wendy McArdle David Masson Nicholas G Martin Fabio Marroni Gavin Lucas Robert Luben Marja-Liisa Lokki Guillaume Lettre Lenore J Launer Edward G Lakatta Reijo Laaksonen Kirsten O Kyvik Inke R König Kay-Tee Khaw Lee M Kaplan Åsa Johansson A Cecile J W Janssens Wilmar Igl G Kees Hovingh Christian Hengstenberg Aki S Havulinna Nicholas D Hastie Tamara B Harris Talin Haritunians Alistair S Hall Leif C Groop Elena Gonzalez Nelson B Freimer Jeanette Erdmann Kenechi G Ejebe Angela Döring Anna F Dominiczak Serkalem Demissie Panagiotis Deloukas Ulf de Faire Gabriel Crawford Yii-der I Chen Mark J Caulfield S Matthijs Boekholdt Themistocles L Assimes Thomas Quertermous Mark Seielstad Tien Y Wong E-Shyong Tai Alan B Feranil Christopher W Kuzawa Herman A Taylor Stacey B Gabriel Hilma Holm Vilmundur Gudnason Ronald M Krauss Jose M Ordovas Patricia B Munroe Jaspal S Kooner Alan R Tall Robert A Hegele John J P Kastelein Eric E Schadt David P Strachan Muredach P Reilly Nilesh J Samani Heribert Schunkert L Adrienne Cupples Manjinder S Sandhu Paul M Ridker Daniel J Rader Sekar Kathiresan

PLoS Genet 2012 29;8(3):e1002607. Epub 2012 Mar 29.

Department of Epidemiology, Biostatistics, and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1371/journal.pgen.1002607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315470PMC
September 2012

A genome-wide association search for type 2 diabetes genes in African Americans.

Authors:
Nicholette D Palmer Caitrin W McDonough Pamela J Hicks Bong H Roh Maria R Wing S Sandy An Jessica M Hester Jessica N Cooke Meredith A Bostrom Megan E Rudock Matthew E Talbert Joshua P Lewis Assiamira Ferrara Lingyi Lu Julie T Ziegler Michele M Sale Jasmin Divers Daniel Shriner Adebowale Adeyemo Charles N Rotimi Maggie C Y Ng Carl D Langefeld Barry I Freedman Donald W Bowden Benjamin F Voight Laura J Scott Valgerdur Steinthorsdottir Andrew P Morris Christian Dina Ryan P Welch Eleftheria Zeggini Cornelia Huth Yurii S Aulchenko Gudmar Thorleifsson Laura J McCulloch Teresa Ferreira Harald Grallert Najaf Amin Guanming Wu Cristen J Willer Soumya Raychaudhuri Steve A McCarroll Claudia Langenberg Oliver M Hofmann Josée Dupuis Lu Qi Ayellet V Segrè Mandy van Hoek Pau Navarro Kristin Ardlie Beverley Balkau Rafn Benediktsson Amanda J Bennett Roza Blagieva Eric Boerwinkle Lori L Bonnycastle Kristina Bengtsson Boström Bert Bravenboer Suzannah Bumpstead Noël P Burtt Guillaume Charpentier Peter S Chines Marilyn Cornelis David J Couper Gabe Crawford Alex S F Doney Katherine S Elliott Amanda L Elliott Michael R Erdos Caroline S Fox Christopher S Franklin Martha Ganser Christian Gieger Niels Grarup Todd Green Simon Griffin Christopher J Groves Candace Guiducci Samy Hadjadj Neelam Hassanali Christian Herder Bo Isomaa Anne U Jackson Paul R V Johnson Torben Jørgensen Wen H L Kao Norman Klopp Augustine Kong Peter Kraft Johanna Kuusisto Torsten Lauritzen Man Li Aloysius Lieverse Cecilia M Lindgren Valeriya Lyssenko Michel Marre Thomas Meitinger Kristian Midthjell Mario A Morken Narisu Narisu Peter Nilsson Katharine R Owen Felicity Payne John R B Perry Ann-Kristin Petersen Carl Platou Christine Proença Inga Prokopenko Wolfgang Rathmann N William Rayner Neil R Robertson Ghislain Rocheleau Michael Roden Michael J Sampson Richa Saxena Beverley M Shields Peter Shrader Gunnar Sigurdsson Thomas Sparsø Klaus Strassburger Heather M Stringham Qi Sun Amy J Swift Barbara Thorand Jean Tichet Tiinamaija Tuomi Rob M van Dam Timon W van Haeften Thijs van Herpt Jana V van Vliet-Ostaptchouk G Bragi Walters Michael N Weedon Cisca Wijmenga Jacqueline Witteman Richard N Bergman Stephane Cauchi Francis S Collins Anna L Gloyn Ulf Gyllensten Torben Hansen Winston A Hide Graham A Hitman Albert Hofman David J Hunter Kristian Hveem Markku Laakso Karen L Mohlke Andrew D Morris Colin N A Palmer Peter P Pramstaller Igor Rudan Eric Sijbrands Lincoln D Stein Jaakko Tuomilehto Andre Uitterlinden Mark Walker Nicholas J Wareham Richard M Watanabe Goncalo R Abecasis Bernhard O Boehm Harry Campbell Mark J Daly Andrew T Hattersley Frank B Hu James B Meigs James S Pankow Oluf Pedersen H-Erich Wichmann Inês Barroso Jose C Florez Timothy M Frayling Leif Groop Rob Sladek Unnur Thorsteinsdottir James F Wilson Thomas Illig Philippe Froguel Cornelia M van Duijn Kari Stefansson David Altshuler Michael Boehnke Mark I McCarthy Nicole Soranzo Eleanor Wheeler Nicole L Glazer Nabila Bouatia-Naji Reedik Mägi Joshua Randall Toby Johnson Paul Elliott Denis Rybin Peter Henneman Abbas Dehghan Jouke Jan Hottenga Kijoung Song Anuj Goel Josephine M Egan Taina Lajunen Alex Doney Stavroula Kanoni Christine Cavalcanti-Proença Meena Kumari Nicholas J Timpson Carina Zabena Erik Ingelsson Ping An Jeffrey O'Connell Jian'an Luan Amanda Elliott Steven A McCarroll Rosa Maria Roccasecca François Pattou Praveen Sethupathy Yavuz Ariyurek Philip Barter John P Beilby Yoav Ben-Shlomo Sven Bergmann Murielle Bochud Amélie Bonnefond Knut Borch-Johnsen Yvonne Böttcher Eric Brunner Suzannah J Bumpstead Yii-Der Ida Chen Peter Chines Robert Clarke Lachlan J M Coin Matthew N Cooper Laura Crisponi Ian N M Day Eco J C de Geus Jerome Delplanque Annette C Fedson Antje Fischer-Rosinsky Nita G Forouhi Rune Frants Maria Grazia Franzosi Pilar Galan Mark O Goodarzi Jürgen Graessler Scott Grundy Rhian Gwilliam Göran Hallmans Naomi Hammond Xijing Han Anna-Liisa Hartikainen Caroline Hayward Simon C Heath Serge Hercberg Andrew A Hicks David R Hillman Aroon D Hingorani Jennie Hui Joe Hung Antti Jula Marika Kaakinen Jaakko Kaprio Y Antero Kesaniemi Mika Kivimaki Beatrice Knight Seppo Koskinen Peter Kovacs Kirsten Ohm Kyvik G Mark Lathrop Debbie A Lawlor Olivier Le Bacquer Cécile Lecoeur Yun Li Robert Mahley Massimo Mangino Alisa K Manning María Teresa Martínez-Larrad Jarred B McAteer Ruth McPherson Christa Meisinger David Melzer David Meyre Braxton D Mitchell Sutapa Mukherjee Silvia Naitza Matthew J Neville Ben A Oostra Marco Orrù Ruth Pakyz Giuseppe Paolisso Cristian Pattaro Daniel Pearson John F Peden Nancy L Pedersen Markus Perola Andreas F H Pfeiffer Irene Pichler Ozren Polasek Danielle Posthuma Simon C Potter Anneli Pouta Michael A Province Bruce M Psaty Nigel W Rayner Kenneth Rice Samuli Ripatti Fernando Rivadeneira Olov Rolandsson Annelli Sandbaek Manjinder Sandhu Serena Sanna Avan Aihie Sayer Paul Scheet Udo Seedorf Stephen J Sharp Beverley Shields Eric J G Sijbrands Angela Silveira Laila Simpson Andrew Singleton Nicholas L Smith Ulla Sovio Amy Swift Holly Syddall Ann-Christine Syvänen Toshiko Tanaka Anke Tönjes André G Uitterlinden Ko Willems van Dijk Dhiraj Varma Sophie Visvikis-Siest Veronique Vitart Nicole Vogelzangs Gérard Waeber Peter J Wagner Andrew Walley Kim L Ward Hugh Watkins Sarah H Wild Gonneke Willemsen Jaqueline C M Witteman John W G Yarnell Diana Zelenika Björn Zethelius Guangju Zhai Jing Hua Zhao M Carola Zillikens Ingrid B Borecki Ruth J F Loos Pierre Meneton Patrik K E Magnusson David M Nathan Gordon H Williams Kaisa Silander Veikko Salomaa George Davey Smith Stefan R Bornstein Peter Schwarz Joachim Spranger Fredrik Karpe Alan R Shuldiner Cyrus Cooper George V Dedoussis Manuel Serrano-Ríos Lars Lind Lyle J Palmer Paul W Franks Shah Ebrahim Michael Marmot W H Linda Kao Peter Paul Pramstaller Alan F Wright Michael Stumvoll Anders Hamsten Thomas A Buchanan Timo T Valle Jerome I Rotter David S Siscovick Brenda W J H Penninx Dorret I Boomsma Panos Deloukas Timothy D Spector Luigi Ferrucci Antonio Cao Angelo Scuteri David Schlessinger Manuela Uda Aimo Ruokonen Marjo-Riitta Jarvelin Dawn M Waterworth Peter Vollenweider Leena Peltonen Vincent Mooser Robert Sladek

PLoS One 2012 4;7(1):e29202. Epub 2012 Jan 4.

Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States of America.

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https://spiral.imperial.ac.uk/bitstream/10044/1/28917/2/A%20
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http://dx.plos.org/10.1371/journal.pone.0029202
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0029202PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251563PMC
May 2012

Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.

J Clin Endocrinol Metab 2012 Apr 16;97(4):1114-24. Epub 2012 Feb 16.

Clinica Pediatrica II and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Microcitemico, Via Jenner s/n, 09121 Cagliari, Sardinia, Italy.

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http://dx.doi.org/10.1210/jc.2011-2461DOI Listing
April 2012

KLF1 gene mutations cause borderline HbA(2).

Blood 2011 Oct 5;118(16):4454-8. Epub 2011 Aug 5.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.

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http://dx.doi.org/10.1182/blood-2011-04-345736DOI Listing
October 2011

Recent advances in β-thalassemias.

Pediatr Rep 2011 Jun;3(2):e17

Biomedical and Biotechnology Department, University of Cagliari, Cagliari, Italy.

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http://dx.doi.org/10.4081/pr.2011.e17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3133499PMC
June 2011

Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.

Haematologica 2011 May 27;96(5):767-70. Epub 2011 Jan 27.

Dipartimento di Scienze Biomediche e Biotecnologie-Università di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, Italy.

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http://dx.doi.org/10.3324/haematol.2010.037333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084925PMC
May 2011

Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.

J Cyst Fibros 2011 May 22;10(3):207-11. Epub 2011 Mar 22.

Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Italy.

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http://dx.doi.org/10.1016/j.jcf.2011.02.006DOI Listing
May 2011

Gene test review. Alpha-thalassemia.

Genet Med 2011 Feb;13(2):83-8

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http://dx.doi.org/10.1097/GIM.0b013e3181fcb468DOI Listing
February 2011

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.

Authors:
Nicole Soranzo Serena Sanna Eleanor Wheeler Christian Gieger Dörte Radke Josée Dupuis Nabila Bouatia-Naji Claudia Langenberg Inga Prokopenko Elliot Stolerman Manjinder S Sandhu Matthew M Heeney Joseph M Devaney Muredach P Reilly Sally L Ricketts Alexandre F R Stewart Benjamin F Voight Christina Willenborg Benjamin Wright David Altshuler Dan Arking Beverley Balkau Daniel Barnes Eric Boerwinkle Bernhard Böhm Amélie Bonnefond Lori L Bonnycastle Dorret I Boomsma Stefan R Bornstein Yvonne Böttcher Suzannah Bumpstead Mary Susan Burnett-Miller Harry Campbell Antonio Cao John Chambers Robert Clark Francis S Collins Josef Coresh Eco J C de Geus Mariano Dei Panos Deloukas Angela Döring Josephine M Egan Roberto Elosua Luigi Ferrucci Nita Forouhi Caroline S Fox Christopher Franklin Maria Grazia Franzosi Sophie Gallina Anuj Goel Jürgen Graessler Harald Grallert Andreas Greinacher David Hadley Alistair Hall Anders Hamsten Caroline Hayward Simon Heath Christian Herder Georg Homuth Jouke-Jan Hottenga Rachel Hunter-Merrill Thomas Illig Anne U Jackson Antti Jula Marcus Kleber Christopher W Knouff Augustine Kong Jaspal Kooner Anna Köttgen Peter Kovacs Knut Krohn Brigitte Kühnel Johanna Kuusisto Markku Laakso Mark Lathrop Cécile Lecoeur Man Li Mingyao Li Ruth J F Loos Jian'an Luan Valeriya Lyssenko Reedik Mägi Patrik K E Magnusson Anders Mälarstig Massimo Mangino María Teresa Martínez-Larrad Winfried März Wendy L McArdle Ruth McPherson Christa Meisinger Thomas Meitinger Olle Melander Karen L Mohlke Vincent E Mooser Mario A Morken Narisu Narisu David M Nathan Matthias Nauck Chris O'Donnell Konrad Oexle Nazario Olla James S Pankow Felicity Payne John F Peden Nancy L Pedersen Leena Peltonen Markus Perola Ozren Polasek Eleonora Porcu Daniel J Rader Wolfgang Rathmann Samuli Ripatti Ghislain Rocheleau Michael Roden Igor Rudan Veikko Salomaa Richa Saxena David Schlessinger Heribert Schunkert Peter Schwarz Udo Seedorf Elizabeth Selvin Manuel Serrano-Ríos Peter Shrader Angela Silveira David Siscovick Kjioung Song Timothy D Spector Kari Stefansson Valgerdur Steinthorsdottir David P Strachan Rona Strawbridge Michael Stumvoll Ida Surakka Amy J Swift Toshiko Tanaka Alexander Teumer Gudmar Thorleifsson Unnur Thorsteinsdottir Anke Tönjes Gianluca Usala Veronique Vitart Henry Völzke Henri Wallaschofski Dawn M Waterworth Hugh Watkins H-Erich Wichmann Sarah H Wild Gonneke Willemsen Gordon H Williams James F Wilson Juliane Winkelmann Alan F Wright Carina Zabena Jing Hua Zhao Stephen E Epstein Jeanette Erdmann Hakon H Hakonarson Sekar Kathiresan Kay-Tee Khaw Robert Roberts Nilesh J Samani Mark D Fleming Robert Sladek Gonçalo Abecasis Michael Boehnke Philippe Froguel Leif Groop Mark I McCarthy W H Linda Kao Jose C Florez Manuela Uda Nicholas J Wareham Inês Barroso James B Meigs

Diabetes 2010 Dec 21;59(12):3229-39. Epub 2010 Sep 21.

Human Genetics, Wellcome Trust Sanger Institute, Hinxton, U.K.

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http://dx.doi.org/10.2337/db10-0502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992787PMC
December 2010

Regulation of the human HBA genes by KLF4 in erythroid cell lines.

Br J Haematol 2010 Jun 15;149(5):748-58. Epub 2010 Mar 15.

Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy.

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http://dx.doi.org/10.1111/j.1365-2141.2010.08130.xDOI Listing
June 2010

A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.

J Mol Diagn 2010 May 26;12(3):380-3. Epub 2010 Feb 26.

Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy.

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http://dx.doi.org/10.2353/jmoldx.2010.090126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860476PMC
May 2010

DAXX is a new AIRE-interacting protein.

J Biol Chem 2010 Apr 25;285(17):13012-21. Epub 2010 Feb 25.

Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Università degli Studi di Cagliari, 09121 Cagliari, Italy.

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http://dx.doi.org/10.1074/jbc.M109.037747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2857146PMC
April 2010

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Authors:
Josée Dupuis Claudia Langenberg Inga Prokopenko Richa Saxena Nicole Soranzo Anne U Jackson Eleanor Wheeler Nicole L Glazer Nabila Bouatia-Naji Anna L Gloyn Cecilia M Lindgren Reedik Mägi Andrew P Morris Joshua Randall Toby Johnson Paul Elliott Denis Rybin Gudmar Thorleifsson Valgerdur Steinthorsdottir Peter Henneman Harald Grallert Abbas Dehghan Jouke Jan Hottenga Christopher S Franklin Pau Navarro Kijoung Song Anuj Goel John R B Perry Josephine M Egan Taina Lajunen Niels Grarup Thomas Sparsø Alex Doney Benjamin F Voight Heather M Stringham Man Li Stavroula Kanoni Peter Shrader Christine Cavalcanti-Proença Meena Kumari Lu Qi Nicholas J Timpson Christian Gieger Carina Zabena Ghislain Rocheleau Erik Ingelsson Ping An Jeffrey O'Connell Jian'an Luan Amanda Elliott Steven A McCarroll Felicity Payne Rosa Maria Roccasecca François Pattou Praveen Sethupathy Kristin Ardlie Yavuz Ariyurek Beverley Balkau Philip Barter John P Beilby Yoav Ben-Shlomo Rafn Benediktsson Amanda J Bennett Sven Bergmann Murielle Bochud Eric Boerwinkle Amélie Bonnefond Lori L Bonnycastle Knut Borch-Johnsen Yvonne Böttcher Eric Brunner Suzannah J Bumpstead Guillaume Charpentier Yii-Der Ida Chen Peter Chines Robert Clarke Lachlan J M Coin Matthew N Cooper Marilyn Cornelis Gabe Crawford Laura Crisponi Ian N M Day Eco J C de Geus Jerome Delplanque Christian Dina Michael R Erdos Annette C Fedson Antje Fischer-Rosinsky Nita G Forouhi Caroline S Fox Rune Frants Maria Grazia Franzosi Pilar Galan Mark O Goodarzi Jürgen Graessler Christopher J Groves Scott Grundy Rhian Gwilliam Ulf Gyllensten Samy Hadjadj Göran Hallmans Naomi Hammond Xijing Han Anna-Liisa Hartikainen Neelam Hassanali Caroline Hayward Simon C Heath Serge Hercberg Christian Herder Andrew A Hicks David R Hillman Aroon D Hingorani Albert Hofman Jennie Hui Joe Hung Bo Isomaa Paul R V Johnson Torben Jørgensen Antti Jula Marika Kaakinen Jaakko Kaprio Y Antero Kesaniemi Mika Kivimaki Beatrice Knight Seppo Koskinen Peter Kovacs Kirsten Ohm Kyvik G Mark Lathrop Debbie A Lawlor Olivier Le Bacquer Cécile Lecoeur Yun Li Valeriya Lyssenko Robert Mahley Massimo Mangino Alisa K Manning María Teresa Martínez-Larrad Jarred B McAteer Laura J McCulloch Ruth McPherson Christa Meisinger David Melzer David Meyre Braxton D Mitchell Mario A Morken Sutapa Mukherjee Silvia Naitza Narisu Narisu Matthew J Neville Ben A Oostra Marco Orrù Ruth Pakyz Colin N A Palmer Giuseppe Paolisso Cristian Pattaro Daniel Pearson John F Peden Nancy L Pedersen Markus Perola Andreas F H Pfeiffer Irene Pichler Ozren Polasek Danielle Posthuma Simon C Potter Anneli Pouta Michael A Province Bruce M Psaty Wolfgang Rathmann Nigel W Rayner Kenneth Rice Samuli Ripatti Fernando Rivadeneira Michael Roden Olov Rolandsson Annelli Sandbaek Manjinder Sandhu Serena Sanna Avan Aihie Sayer Paul Scheet Laura J Scott Udo Seedorf Stephen J Sharp Beverley Shields Gunnar Sigurethsson Eric J G Sijbrands Angela Silveira Laila Simpson Andrew Singleton Nicholas L Smith Ulla Sovio Amy Swift Holly Syddall Ann-Christine Syvänen Toshiko Tanaka Barbara Thorand Jean Tichet Anke Tönjes Tiinamaija Tuomi André G Uitterlinden Ko Willems van Dijk Mandy van Hoek Dhiraj Varma Sophie Visvikis-Siest Veronique Vitart Nicole Vogelzangs Gérard Waeber Peter J Wagner Andrew Walley G Bragi Walters Kim L Ward Hugh Watkins Michael N Weedon Sarah H Wild Gonneke Willemsen Jaqueline C M Witteman John W G Yarnell Eleftheria Zeggini Diana Zelenika Björn Zethelius Guangju Zhai Jing Hua Zhao M Carola Zillikens Ingrid B Borecki Ruth J F Loos Pierre Meneton Patrik K E Magnusson David M Nathan Gordon H Williams Andrew T Hattersley Kaisa Silander Veikko Salomaa George Davey Smith Stefan R Bornstein Peter Schwarz Joachim Spranger Fredrik Karpe Alan R Shuldiner Cyrus Cooper George V Dedoussis Manuel Serrano-Ríos Andrew D Morris Lars Lind Lyle J Palmer Frank B Hu Paul W Franks Shah Ebrahim Michael Marmot W H Linda Kao James S Pankow Michael J Sampson Johanna Kuusisto Markku Laakso Torben Hansen Oluf Pedersen Peter Paul Pramstaller H Erich Wichmann Thomas Illig Igor Rudan Alan F Wright Michael Stumvoll Harry Campbell James F Wilson Richard N Bergman Thomas A Buchanan Francis S Collins Karen L Mohlke Jaakko Tuomilehto Timo T Valle David Altshuler Jerome I Rotter David S Siscovick Brenda W J H Penninx Dorret I Boomsma Panos Deloukas Timothy D Spector Timothy M Frayling Luigi Ferrucci Augustine Kong Unnur Thorsteinsdottir Kari Stefansson Cornelia M van Duijn Yurii S Aulchenko Antonio Cao Angelo Scuteri David Schlessinger Manuela Uda Aimo Ruokonen Marjo-Riitta Jarvelin Dawn M Waterworth Peter Vollenweider Leena Peltonen Vincent Mooser Goncalo R Abecasis Nicholas J Wareham Robert Sladek Philippe Froguel Richard M Watanabe James B Meigs Leif Groop Michael Boehnke Mark I McCarthy Jose C Florez Inês Barroso

Nat Genet 2010 Feb 17;42(2):105-16. Epub 2010 Jan 17.

Department of Biostatistics, Boston University School of Public Health, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3018764PMC
February 2010

Beta-thalassemia.

Genet Med 2010 Feb;12(2):61-76

Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy.

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http://dx.doi.org/10.1097/GIM.0b013e3181cd68edDOI Listing
February 2010

Amelioration of Sardinian beta0 thalassemia by genetic modifiers.

Blood 2009 Oct 20;114(18):3935-7. Epub 2009 Aug 20.

Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Ospedale Regionale Microcitemie ASL Cagliari, Cagliari, Italy.

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http://dx.doi.org/10.1182/blood-2009-04-217901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925722PMC
October 2009

COL4A1 is associated with arterial stiffness by genome-wide association scan.

Circ Cardiovasc Genet 2009 Apr 18;2(2):151-8. Epub 2009 Feb 18.

Laboratory of Cardiovascular Science, Laboratory of Genetics, Clinical Research Branch, Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.108.823245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2801872PMC
April 2009

Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy.

Eur J Pediatr 2009 Feb 7;168(2):237-40. Epub 2008 May 7.

Department of Pediatrics, University of Messina, Via Consolare Valeria, 1, 98126 Messina, Italy.

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http://dx.doi.org/10.1007/s00431-008-0736-8DOI Listing
February 2009

Variants in MTNR1B influence fasting glucose levels.

Authors:
Inga Prokopenko Claudia Langenberg Jose C Florez Richa Saxena Nicole Soranzo Gudmar Thorleifsson Ruth J F Loos Alisa K Manning Anne U Jackson Yurii Aulchenko Simon C Potter Michael R Erdos Serena Sanna Jouke-Jan Hottenga Eleanor Wheeler Marika Kaakinen Valeriya Lyssenko Wei-Min Chen Kourosh Ahmadi Jacques S Beckmann Richard N Bergman Murielle Bochud Lori L Bonnycastle Thomas A Buchanan Antonio Cao Alessandra Cervino Lachlan Coin Francis S Collins Laura Crisponi Eco J C de Geus Abbas Dehghan Panos Deloukas Alex S F Doney Paul Elliott Nelson Freimer Vesela Gateva Christian Herder Albert Hofman Thomas E Hughes Sarah Hunt Thomas Illig Michael Inouye Bo Isomaa Toby Johnson Augustine Kong Maria Krestyaninova Johanna Kuusisto Markku Laakso Noha Lim Ulf Lindblad Cecilia M Lindgren Owen T McCann Karen L Mohlke Andrew D Morris Silvia Naitza Marco Orrù Colin N A Palmer Anneli Pouta Joshua Randall Wolfgang Rathmann Jouko Saramies Paul Scheet Laura J Scott Angelo Scuteri Stephen Sharp Eric Sijbrands Jan H Smit Kijoung Song Valgerdur Steinthorsdottir Heather M Stringham Tiinamaija Tuomi Jaakko Tuomilehto André G Uitterlinden Benjamin F Voight Dawn Waterworth H-Erich Wichmann Gonneke Willemsen Jacqueline C M Witteman Xin Yuan Jing Hua Zhao Eleftheria Zeggini David Schlessinger Manjinder Sandhu Dorret I Boomsma Manuela Uda Tim D Spector Brenda Wjh Penninx David Altshuler Peter Vollenweider Marjo Riitta Jarvelin Edward Lakatta Gerard Waeber Caroline S Fox Leena Peltonen Leif C Groop Vincent Mooser L Adrienne Cupples Unnur Thorsteinsdottir Michael Boehnke Inês Barroso Cornelia Van Duijn Josée Dupuis Richard M Watanabe Kari Stefansson Mark I McCarthy Nicholas J Wareham James B Meigs Gonçalo R Abecasis

Nat Genet 2009 Jan 7;41(1):77-81. Epub 2008 Dec 7.

[1] Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK. [2] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK. [3] These authors contributed equally to this work.

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http://dx.doi.org/10.1038/ng.290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2682768PMC
January 2009

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.

Pediatr Nephrol 2008 Dec 12;23(12):2267-71. Epub 2008 Jul 12.

Department of Pediatrics and Clinical Medicine, University of Cagliari, Cagliari, Italy.

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http://dx.doi.org/10.1007/s00467-008-0913-zDOI Listing
December 2008

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.

Eur J Hum Genet 2008 Jun 13;16(6):696-704. Epub 2008 Feb 13.

Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy.

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http://dx.doi.org/10.1038/ejhg.2008.7DOI Listing
June 2008

Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.

Mol Immunol 2008 Feb 1;45(3):805-9. Epub 2007 Aug 1.

Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy.

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http://dx.doi.org/10.1016/j.molimm.2007.06.156DOI Listing
February 2008

Transcriptional control of ovarian development in somatic cells.

Semin Reprod Med 2007 Jul;25(4):252-63

Laboratory of Genetics, National Institute on Aging, Baltimore, MD, USA.

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http://dx.doi.org/10.1055/s-2007-980219DOI Listing
July 2007

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.

Eur J Med Genet 2007 Jan-Feb;50(1):79-84. Epub 2006 Nov 10.

Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Via Jenner s/n, 09134 Cagliari, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120600103
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http://dx.doi.org/10.1016/j.ejmg.2006.10.003DOI Listing
March 2007

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

J Hum Genet 2006 6;51(11):1030-6. Epub 2006 Sep 6.

Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, via Jenner s/n, 09134 Cagliari, Italy.

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http://dx.doi.org/10.1007/s10038-006-0049-6DOI Listing
January 2007

Determination and stability of sex.

Bioessays 2007 Jan;29(1):15-25

Laboratory of Genetics, National Institute on Aging, Baltimore, MD 21224, USA.

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http://dx.doi.org/10.1002/bies.20515DOI Listing
January 2007

No influence of chromosome Y haplogroup variation in acute graft-versus-host disease in sardinia.

Transplantation 2006 Dec;82(11):1529-32

Department of Biomedical Science and Biotechnology, Paediatric Clinic of the Bone Marrow Transplant Centre, University of Cagliari, Cagliari, Italy.

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http://dx.doi.org/10.1097/01.tp.0000235822.46197.61DOI Listing
December 2006

Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes.

Prenat Diagn 2006 May;26(5):418-9

Istituto di Neurogenetica e Neurofarmacologia, CNR-Selargius, Via Boccaccio 8, 09047 Selargius, Cagliari, Italy.

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http://dx.doi.org/10.1002/pd.1427DOI Listing
May 2006

Thalassaemia-like carriers not linked to the beta-globin gene cluster.

Br J Haematol 2006 Mar;132(5):640-50

Istituto di Neurogenetica e Neurofarmacologia, CNR, Cagliari, Italy.

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http://dx.doi.org/10.1111/j.1365-2141.2005.05915.xDOI Listing
March 2006

beta-Minor globin gene expression is preferentially reduced in EKLF Knock-Out mice.

Gene 2005 May 19;351:11-7. Epub 2005 Apr 19.

Istituto di Neurogenetica e Neurofarmacologia (INN) del Consiglio Nazionale delle Ricerche (CNR), Selargius (CA), Cagliari, Sardinia, Italy.

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http://dx.doi.org/10.1016/j.gene.2005.03.005DOI Listing
May 2005

Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients.

Br J Haematol 2004 Dec;127(5):604-6

Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Microcitemico, University of Cagliari, 09121 Cagliari, Italy.

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http://doi.wiley.com/10.1111/j.1365-2141.2004.05237.x
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December 2004

The distal beta-globin CACCC box is required for maximal stimulation of the beta-globin gene by EKLF.

Br J Haematol 2004 Oct;127(1):114-7

Istituto di Neurogenetica e Neurofarmacologia, Universita di Cagliari, Cagliari, Italy.

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http://dx.doi.org/10.1111/j.1365-2141.2004.05153.xDOI Listing
October 2004

Quality of life and survival of patients with beta-thalassemia major.

Authors:
Antonio Cao

Haematologica 2004 Oct;89(10):1157-9

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October 2004

A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF.

Br J Haematol 2004 Sep;126(6):881-4

Dipartimento di Scienze Biomediche e Biotecnologie, Universita' di Cagliari.

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http://dx.doi.org/10.1111/j.1365-2141.2004.05146.xDOI Listing
September 2004

Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region.

Eur J Hum Genet 2004 Aug;12(8):613-9

Istituto di Neurogenetica e Neurofarmacologia Consiglio Nazionale delle Ricerche (INN-CNR), Cagliari, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201205DOI Listing
August 2004

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.

Hum Mol Genet 2004 Jun 31;13(11):1171-81. Epub 2004 Mar 31.

Laboratory of Genetics, National Institute on Aging, Baltimore, MD 21224, USA.

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http://dx.doi.org/10.1093/hmg/ddh124DOI Listing
June 2004

FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.

Genomics 2004 May;83(5):757-64

Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, CNR, Via Jenner, Cagliari 09121, Italy.

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http://dx.doi.org/10.1016/j.ygeno.2003.11.010DOI Listing
May 2004

Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.

Genet Test 2003 ;7(2):107-12

Ospedale Regionale per Le Microcitemie, ASL 8, Cagliari, 09121 Cagliari-Sardegna, Italy.

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http://dx.doi.org/10.1089/109065703322146786DOI Listing
April 2004

Cloning MafF by recognition site screening with the NFE2 tandem repeat of HS2: analysis of its role in globin and GCSl genes regulation.

Blood Cells Mol Dis 2002 Sep-Oct;29(2):145-58

Istituto di Neurogenetica e Neurofarmacologia, CNR, Cagliari 09121, Italy.

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November 2003

Neural tube defects in the offspring of thalassemia carriers.

Fetal Diagn Ther 2003 Jan-Feb;18(1):5-7

Department of Obstetrics and Gynecology, Prenatal and Preimplantation Diagnosis and Fetal Therapy, Regional Hospital for Microcythemia, Cagliari, Italy.

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http://dx.doi.org/10.1159/000066375DOI Listing
September 2003

Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation.

Lancet 2003 Jul;362(9377):41-2

Universita degli Studi di Cagliari, Department of Biomedical Science and Biotechnology, Paediatric Clinic of the Bone Marrow Transplant Centre, Cagliari, Italy.

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http://dx.doi.org/10.1016/S0140-6736(03)13806-8DOI Listing
July 2003

Frequency of hemochromatosis C282Y and H63D mutations in Sardinia.

Genet Test 2002 ;6(4):327-9

Dipartimento di Scienze Biomediche e Biotecnologie, Sezione Clinica e Biologia dell'Età Evolutiva, Università degli studi di Cagliari, Ospedale Regionale per le Microcitemie ASL, 8 Cagliari, Italy.

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http://dx.doi.org/10.1089/10906570260471886DOI Listing
June 2003

Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population.

Clin Chem 2003 Mar;49(3):496-8

Instituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale Richerche, Cagliari, via Boccaccio 8, 0947 Selagius, Italy.

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March 2003

Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray.

Clin Chem 2002 Nov;48(11):2051-4

IARC, International Agency for Research on Cancer, 150, Cours Albert Thomas, Lyon 69372, France.

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November 2002

Effect of consanguinity on screening for thalassemia.

N Engl J Med 2002 Oct;347(15):1200-2

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http://dx.doi.org/10.1056/NEJMe020086DOI Listing
October 2002

Homozygosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype.

Blood 2002 Sep;100(5):1913-4

Ospedale Regionale Microcitemie; and Dipartimento di Scienze Biomediche e Biotecnologie and Dipartimento di Scienze Pediatriche, Università di Cagliari, Italy.

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September 2002

Carrier screening and genetic counselling in beta-thalassemia.

Authors:
Antonio Cao

Int J Hematol 2002 Aug;76 Suppl 2:105-13

Dipartimento di Scienze Biomediche e Biotecnologie, Università Studi Cagliari, Italy.

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August 2002

Screening for thalassemia: a model of success.

Obstet Gynecol Clin North Am 2002 Jun;29(2):305-28, vi-vii

Department of Pediatrics, Università degli Studi di Cagliari, Sardinia, Italy.

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June 2002

Regulation of the globin genes.

Pediatr Res 2002 Apr;51(4):415-21

Istituto di Clinica e Biologia dell'Età Evolutiva, Università di Cagliari, Cagliari, Italy.

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http://dx.doi.org/10.1203/00006450-200204000-00003DOI Listing
April 2002

H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.

Haematologica 2002 Mar;87(3):242-5

Dipartimento Scienze Biomediche e Biotecnologie, Sezione Clinica e Biología dell'Età Evolutiva, Università degli Studi di Cagliari, Italy.

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March 2002

Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

J Clin Endocrinol Metab 2002 Feb;87(2):841-6

Istituto di Ricerca sulle Talassemie e Anemie Mediterranee, Consiglio Nazionale Ricerche, 09121 Cagliari.

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http://dx.doi.org/10.1210/jcem.87.2.8209DOI Listing
February 2002

Prenatal Diagnosis and Screening of the Haemoglobinopathies.

EJIFCC 1999 Dec 7;11(3):59-69. Epub 1999 Dec 7.

Clinicae Biologia dell'Età Evolutiva, Universita Studi Cagliari, Cagliari, Sardinia, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351755PMC
December 1999