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Summary of demographic features, developmental milestones, medical complications and exome sequencing of cohort.

Patricia Blanchet (524838)
Martina Bebin (4405639)
Shaam Bruet (4405654)
Gregory M. Cooper (219917)
Michelle L. Thompson (719174)
Benedicte Duban-Bedu (4405651)
Benedicte Gerard (4405642)
Amelie Piton (4405648)
Sylvie Suckno (4405633)
Charu Deshpande (210571)
Virginia Clowes (239922)
Julie Vogt (4405636)
Peter Turnpenny (4405645)
Michael P. Williamson (343360)
Yves Alembik (4405630)
Eric Glasgow (104334)
Alisdair McNeill (436049)

Publication date

August 2017

DOI

10.1371/journal.pgen.1006957.t001

Abstract

<p>Summary of demographic features, developmental milestones, medical complications and exome sequencing of cohort.</p

Extracted data

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Shuaijie Zhang (17020993)
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Jie Lu (139953)
Matthew C. Cowperthwaite (93322)
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April 2016

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Roberto Erro (440457)
Carmine Vitale (440458)
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Marina Picillo (440460)
Marcello Moccia (440461)
Katia Longo (440462)
Gabriella Santangelo (440463)
Anna De Rosa (440464)
Roberto Allocca (440465)
Flavio Giordano (440466)
Giuseppe Orefice (440467)
Giuseppe De Michele (227723)
Lucio Santoro (440468)
Maria Teresa Pellecchia (436067)
Paolo Barone (436053)

August 2013

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Gary P. Brennan (164551)
Dimitrios M. Vitsios (6037802)
Sophie Casey (6037805)
Ann-Marie Looney (6037808)
Boubou Hallberg (6037811)
David C. Henshall (164591)
Geraldine B. Boylan (114833)
Deirdre M. Murray (114841)
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Poulami Das (150956)
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Kedar Deodhar (150968)
Umesh Mahantshetty (150962)
Shyam K. Shrivastava (150965)
Karthikeyan Sivaraman (503556)
Rita Mulherkar (150973)

November 2016

<p>Demographic details of the 10 patients included in the whole exome sequencing study</p

Overview of sex, age and co-morbidities in various subgroups of the study population.

Carsten Simonsen (6239804)
Kristinn Thorsteinsson (6239807)
Rikke Nørmark Mortensen (6239810)
Christian Torp-Pedersen (103282)
Benedict Kjærgaard (3763786)
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January 2019

Overview of sex, age and co-morbidities in various subgroups of the study population.</p

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Niels Westra (6697142)
Johannes H. Proost (4007066)
Casper F. M. Franssen (504275)
Erik B. Wilms (6697145)
Marjolijn van Buren (779136)
Daan J. Touw (298929)

May 2019

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Summary of clinical information and mutation detection rates for subgroups of the cohort.

Laura Gieldon (5616821)
Luisa Mackenroth (3140664)
Anne-Karin Kahlert (4796442)
Johannes R. Lemke (3175583)
Joseph Porrmann (5616824)
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Arne Jahn (5616842)
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August 2018

<p>Summary of clinical information and mutation detection rates for subgroups of the cohort.</p

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Sara Carvalho (169189)
Ralph T. H. Leijenaar (805757)
Esther G. C. Troost (815660)
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Cary Oberije (810402)
Wouter van Elmpt (810401)
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Johan Bussink (297952)
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March 2018

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Summary table of the clinical characteristics of the LGMD2I cohort (n = 38).

Tracey A. Willis (445696)
Kieren G. Hollingsworth (445697)
Anna Coombs (445698)
Marie-Louise Sveen (445699)
Soren Andersen (528900)
Tanya Stojkovic (445701)
Michelle Eagle (445702)
Anna Mayhew (445703)
Paulo Loureiro de Sousa (63761)
Liz Dewar (445705)
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Michael G. Hanna (445710)
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Pierre G. Carlier (445711)
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February 2014

<p>Summary table of the clinical characteristics of the LGMD2I cohort (n = 38).</p

Summary of the distribution of demographic and clinical variables in the whole study cohort (n = 3417).

M. B. Toledano (6555881)
S. K. Mukherjee (6555884)
J. Howell (3560294)
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S. A. Khan (593116)
D. Bilton (6555890)
N. J. Simmonds (6555893)

April 2019

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Summary of demographic, clinical and laboratory data for cohort 1 patients with CKD and controls.

Nadezhda A. Wall (319159)
C. Coral Dominguez-Medina (5105237)
Sian E. Faustini (5105249)
Charlotte N. Cook (5105252)
Andrew McClean (5105246)
Mark D. Jesky (535502)
Marisol Perez-Toledo (5105255)
Matthew D. Morgan (5105240)
Alexandra G. Richter (5105243)
Charles J. Ferro (319168)
Paul Cockwell (345149)
Paul A. Moss (5105234)
Ian R. Henderson (146845)
Lorraine Harper (140622)
Adam F. Cunningham (218644)

April 2018

<p>Summary of demographic, clinical and laboratory data for cohort 1 patients with CKD and controls....

Descriptive summary of cohort demographics, CKD risk factors, CKD indicators, and CKD biomarkers.

Melissa S. Nolan (316753)
Amber S. Podoll (316754)
Anne M. Hause (316755)
Katherine M. Akers (316756)
Kevin W. Finkel (316757)
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February 2013

<p>Descriptive summary of cohort demographics, CKD risk factors, CKD indicators, and CKD biomarkers....

Demographic and clinical characteristics of women and newborns involved in the exploratory cohort.

Vojtech Tambor (151481)
Marian Kacerovsky (151488)
Ctirad Andrys (151494)
Ivana Musilova (151501)
Helena Hornychova (151508)
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Marek Link (151527)
Jiri Stulik (151536)
Juraj Lenco (151543)

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<p>Demographic and clinical characteristics of women and newborns involved in the exploratory cohort...