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Clinical features and genetic variants identified in patients with unknown diagnoses.

Ebun Omoyinmi (125984)
Ariane Standing (4281337)
Annette Keylock (4281334)
Fiona Price-Kuehne (4281358)
Sonia Melo Gomes (4281355)
Dorota Rowczenio (4281340)
Sira Nanthapisal (4281343)
Thomas Cullup (4281352)
Rodney Nyanhete (4281349)
Emma Ashton (4281346)
Claire Murphy (4281328)
Megan Clarke (4281331)
Helena Ahlfors (433264)
Lucy Jenkins (4281325)
Kimberly Gilmour (474755)
Despina Eleftheriou (714345)
Helen J. Lachmann (4278220)
Philip N. Hawkins (4278214)
Nigel Klein (18890)
Paul A. Brogan (714357)

Publication date

July 2017

DOI

10.1371/journal.pone.0181874.t003

Abstract

<p>Clinical features and genetic variants identified in patients with unknown diagnoses.</p

Extracted data

Topics

Related items

Association between clinic-pathological features and EC patients stratified by genetic mutational profiles.

Tomoko Haruma (4764213)
Takeshi Nagasaka (8474)
Keiichiro Nakamura (4764207)
Junko Haraga (4764204)
Akihiro Nyuya (4764216)
Takeshi Nishida (703341)
Ajay Goel (130080)
Hisashi Masuyama (541901)
Yuji Hiramatsu (541902)

April 2018

<p>Association between clinic-pathological features and EC patients stratified by genetic mutational...

Genetic variants reported as benign in MITOMAP detected in 100 patients tested.

Paula I. Buonfiglio (14675277)
Sebastián Menazzi (14675280)
Liliana Francipane (14675283)
Vanesa Lotersztein (9340034)
Verónica Ferreiro (14675286)
Ana Belén Elgoyhen (14076752)
Viviana Dalamón (14675289)

February 2023

Genetic variants reported as benign in MITOMAP detected in 100 patients tested.</p

Clinical, pathological and familial features of the patients included in this study.

María Arriba (6707465)
Carmen Sánchez (6707468)
Alfredo Vivas (6707471)
OA Nutu (6707474)
Daniel Rueda (4567966)
Sandra Tapial (6707477)
Yolanda Rodríguez (160657)
Lorena Brandáriz (6707480)
Juan L. García (343705)
Damián García-Olmo (6707483)
Ajay Goel (130080)
Rogelio González-Sarmiento (461183)
Miguel Urioste (347065)
José Perea (5598263)

May 2019

Clinical, pathological and familial features of the patients included in this study.</p

Variants found in the present study and clinical characteristics of the families.

Maria Bejerholm Christensen (6645749)
Karin Wadt (447687)
Uffe Birk Jensen (395267)
Charlotte Kvist Lautrup (6645752)
Anders Bojesen (447688)
Lotte Nylandsted Krogh (489128)
Thomas van Overeem Hansen (4759692)
Anne-Marie Gerdes (395264)

April 2019

Variants found in the present study and clinical characteristics of the families.</p

Clinical features and gene identification results of the probands and their first relatives.

Haihong Wang (543268)
Shengyuan Xu (543269)
Liyuan Sun (341870)
Xiaodong Pan (396765)
Shiwei Yang (310216)
Luya Wang (543270)

March 2014

<p>Clinical features and gene identification results of the probands and their first relatives.</p

Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.

Luis Manso (647242)
Silvana Mourón (2794501)
Michael Tress (19260)
Gonzalo Gómez-López (161080)
Manuel Morente (2794495)
Eva Ciruelos (2794504)
Miriam Rubio-Camarillo (2794498)
Jose Luis Rodriguez-Peralto (2794507)
Miguel A. Pujana (2794492)
David G. Pisano (161117)
Miguel Quintela-Fandino (2794510)

May 2016

<p>Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.</p

Comparison of clinical Characteristics of patients with or without known driver mutations.

Chenguang Li (338444)
Rong Fang (175080)
Yihua Sun (109335)
Xiangkun Han (338448)
Fei Li (143236)
Bin Gao (191656)
A. John Iafrate (128597)
Xin-Yuan Liu (165228)
William Pao (25938)
Haiquan Chen (109336)
Hongbin Ji (159618)

February 2013

<p>Comparison of clinical Characteristics of patients with or without known driver mutations.</p

Pathogenic genetic variants identified in affected individuals with overlapping syndromes.

Sara Gonçalves (5228234)
Julie Patat (5228213)
Maria Clara Guida (5228216)
Noelle Lachaussée (5228231)
Christelle Arrondel (5228219)
Martin Helmstädter (152659)
Olivia Boyer (534577)
Olivier Gribouval (365164)
Marie-Claire Gubler (365165)
Geraldine Mollet (4524994)
Marlène Rio (3543572)
Marina Charbit (5228210)
Christine Bole-Feysot (182)
Patrick Nitschke (526224)
Tobias B. Huber (152684)
Patricia G. Wheeler (5228222)
Devon Haynes (5228225)
Jane Juusola (286251)
Thierry Billette de Villemeur (5228228)
Caroline Nava (529842)
Alexandra Afenjar (374554)
Boris Keren (374547)
Rolf Bodmer (76494)
Corinne Antignac (241981)
Matias Simons (152669)

May 2018

<p>Pathogenic genetic variants identified in affected individuals with overlapping syndromes.</p

Phenotypic and biological profiles of the patients bearing the four new allelic variants.

Claire Rochette (2212339)
Nicolas Jullien (82773)
Alexandru Saveanu (2212324)
Emmanuelle Caldagues (2212330)
Ignacio Bergada (2212327)
Debora Braslavsky (2212336)
Marija Pfeifer (2212321)
Rachel Reynaud (408386)
Jean-Paul Herman (82778)
Anne Barlier (490235)
Thierry Brue (341760)
Alain Enjalbert (2212333)
Frederic Castinetti (2212318)

May 2015

<p>Phenotypic and biological profiles of the patients bearing the four new allelic variants.</p

Genetic variants identified in the patient.

Isabelle Schrauwen (5661358)
Szabolcs Szelinger (215378)
Ashley L. Siniard (618764)
Ahmet Kurdoglu (128116)
Jason J. Corneveaux (295543)
Ivana Malenica (559417)
Ryan Richholt (770511)
Guy Van Camp (82411)
Matt De Both (770512)
Shanker Swaminathan (295539)
Mari Turk (295547)
Keri Ramsey (271046)
David W. Craig (128068)
Vinodh Narayanan (72819)
Matthew J. Huentelman (295541)

July 2015

<p>In bold is the mutation in CAV1. MAF EVS = Minor allele frequency Exome variant server (all popul...

Identification of disease-causing variants.

Paula I. Buonfiglio (14675277)
Sebastián Menazzi (14675280)
Liliana Francipane (14675283)
Vanesa Lotersztein (9340034)
Verónica Ferreiro (14675286)
Ana Belén Elgoyhen (14076752)
Viviana Dalamón (14675289)

February 2023

A, General diagnostic rate and frequency of genes harboring pathogenic variants in diagnosed patient...

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

Sijmons, Rolf H.
Greenblatt, Marc S.
Genuardi, Maurizio

June 2013

Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive re...

Clinical information of TOF patients with rare, functionally significant variants.

Ana Töpf (5572253)
Helen R. Griffin (265737)
Elise Glen (492753)
Rachel Soemedi (610265)
Danielle L. Brown (610266)
Darroch Hall (277207)
Thahira J. Rahman (209772)
Jyrki J. Eloranta (139968)
Christoph Jüngst (610267)
A. Graham Stuart (265749)
John O'Sullivan (43006)
Bernard D. Keavney (277209)
Judith A. Goodship (265776)

August 2014

<p>Clinical information of TOF patients with rare, functionally significant variants.</p

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.

Genuardi, Maurizio (ORCID:0000-0002-7410-8351)

January 2013

Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive re...

Clinical parameters and the genotype of the patients involved in the study.

Miklós Fagyas (545422)
Katalin Úri (545423)
Ivetta M. Siket (545424)
Andrea Daragó (545425)
Judit Boczán (481521)
Emese Bányai (545426)
István Édes (481522)
Zoltán Papp (5656855)
Attila Tóth (2847734)

April 2014

<p>Clinical parameters and the genotype of the patients involved in the study.</p

Association between clinic-pathological features and EC patients stratified by genetic mutational profiles.

Tomoko Haruma (4764213)
Takeshi Nagasaka (8474)
Keiichiro Nakamura (4764207)
Junko Haraga (4764204)
Akihiro Nyuya (4764216)
Takeshi Nishida (703341)
Ajay Goel (130080)
Hisashi Masuyama (541901)
Yuji Hiramatsu (541902)

April 2018

<p>Association between clinic-pathological features and EC patients stratified by genetic mutational...

Genetic variants reported as benign in MITOMAP detected in 100 patients tested.

Paula I. Buonfiglio (14675277)
Sebastián Menazzi (14675280)
Liliana Francipane (14675283)
Vanesa Lotersztein (9340034)
Verónica Ferreiro (14675286)
Ana Belén Elgoyhen (14076752)
Viviana Dalamón (14675289)

February 2023

Genetic variants reported as benign in MITOMAP detected in 100 patients tested.</p

Clinical, pathological and familial features of the patients included in this study.

María Arriba (6707465)
Carmen Sánchez (6707468)
Alfredo Vivas (6707471)
OA Nutu (6707474)
Daniel Rueda (4567966)
Sandra Tapial (6707477)
Yolanda Rodríguez (160657)
Lorena Brandáriz (6707480)
Juan L. García (343705)
Damián García-Olmo (6707483)
Ajay Goel (130080)
Rogelio González-Sarmiento (461183)
Miguel Urioste (347065)
José Perea (5598263)

May 2019

Clinical, pathological and familial features of the patients included in this study.</p

Variants found in the present study and clinical characteristics of the families.

Maria Bejerholm Christensen (6645749)
Karin Wadt (447687)
Uffe Birk Jensen (395267)
Charlotte Kvist Lautrup (6645752)
Anders Bojesen (447688)
Lotte Nylandsted Krogh (489128)
Thomas van Overeem Hansen (4759692)
Anne-Marie Gerdes (395264)

April 2019

Variants found in the present study and clinical characteristics of the families.</p

Clinical features and gene identification results of the probands and their first relatives.

Haihong Wang (543268)
Shengyuan Xu (543269)
Liyuan Sun (341870)
Xiaodong Pan (396765)
Shiwei Yang (310216)
Luya Wang (543270)

March 2014

<p>Clinical features and gene identification results of the probands and their first relatives.</p

Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.

Luis Manso (647242)
Silvana Mourón (2794501)
Michael Tress (19260)
Gonzalo Gómez-López (161080)
Manuel Morente (2794495)
Eva Ciruelos (2794504)
Miriam Rubio-Camarillo (2794498)
Jose Luis Rodriguez-Peralto (2794507)
Miguel A. Pujana (2794492)
David G. Pisano (161117)
Miguel Quintela-Fandino (2794510)

May 2016

<p>Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.</p

Comparison of clinical Characteristics of patients with or without known driver mutations.

Chenguang Li (338444)
Rong Fang (175080)
Yihua Sun (109335)
Xiangkun Han (338448)
Fei Li (143236)
Bin Gao (191656)
A. John Iafrate (128597)
Xin-Yuan Liu (165228)
William Pao (25938)
Haiquan Chen (109336)
Hongbin Ji (159618)

February 2013

<p>Comparison of clinical Characteristics of patients with or without known driver mutations.</p

Pathogenic genetic variants identified in affected individuals with overlapping syndromes.

Sara Gonçalves (5228234)
Julie Patat (5228213)
Maria Clara Guida (5228216)
Noelle Lachaussée (5228231)
Christelle Arrondel (5228219)
Martin Helmstädter (152659)
Olivia Boyer (534577)
Olivier Gribouval (365164)
Marie-Claire Gubler (365165)
Geraldine Mollet (4524994)
Marlène Rio (3543572)
Marina Charbit (5228210)
Christine Bole-Feysot (182)
Patrick Nitschke (526224)
Tobias B. Huber (152684)
Patricia G. Wheeler (5228222)
Devon Haynes (5228225)
Jane Juusola (286251)
Thierry Billette de Villemeur (5228228)
Caroline Nava (529842)
Alexandra Afenjar (374554)
Boris Keren (374547)
Rolf Bodmer (76494)
Corinne Antignac (241981)
Matias Simons (152669)

May 2018

<p>Pathogenic genetic variants identified in affected individuals with overlapping syndromes.</p

Phenotypic and biological profiles of the patients bearing the four new allelic variants.

Claire Rochette (2212339)
Nicolas Jullien (82773)
Alexandru Saveanu (2212324)
Emmanuelle Caldagues (2212330)
Ignacio Bergada (2212327)
Debora Braslavsky (2212336)
Marija Pfeifer (2212321)
Rachel Reynaud (408386)
Jean-Paul Herman (82778)
Anne Barlier (490235)
Thierry Brue (341760)
Alain Enjalbert (2212333)
Frederic Castinetti (2212318)

May 2015

<p>Phenotypic and biological profiles of the patients bearing the four new allelic variants.</p

Genetic variants identified in the patient.

Isabelle Schrauwen (5661358)
Szabolcs Szelinger (215378)
Ashley L. Siniard (618764)
Ahmet Kurdoglu (128116)
Jason J. Corneveaux (295543)
Ivana Malenica (559417)
Ryan Richholt (770511)
Guy Van Camp (82411)
Matt De Both (770512)
Shanker Swaminathan (295539)
Mari Turk (295547)
Keri Ramsey (271046)
David W. Craig (128068)
Vinodh Narayanan (72819)
Matthew J. Huentelman (295541)

July 2015

<p>In bold is the mutation in CAV1. MAF EVS = Minor allele frequency Exome variant server (all popul...

Identification of disease-causing variants.

Paula I. Buonfiglio (14675277)
Sebastián Menazzi (14675280)
Liliana Francipane (14675283)
Vanesa Lotersztein (9340034)
Verónica Ferreiro (14675286)
Ana Belén Elgoyhen (14076752)
Viviana Dalamón (14675289)

February 2023

A, General diagnostic rate and frequency of genes harboring pathogenic variants in diagnosed patient...

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

Sijmons, Rolf H.
Greenblatt, Marc S.
Genuardi, Maurizio

June 2013

Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive re...

Clinical information of TOF patients with rare, functionally significant variants.

Ana Töpf (5572253)
Helen R. Griffin (265737)
Elise Glen (492753)
Rachel Soemedi (610265)
Danielle L. Brown (610266)
Darroch Hall (277207)
Thahira J. Rahman (209772)
Jyrki J. Eloranta (139968)
Christoph Jüngst (610267)
A. Graham Stuart (265749)
John O'Sullivan (43006)
Bernard D. Keavney (277209)
Judith A. Goodship (265776)

August 2014

<p>Clinical information of TOF patients with rare, functionally significant variants.</p

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.

Genuardi, Maurizio (ORCID:0000-0002-7410-8351)

January 2013

Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive re...

Clinical parameters and the genotype of the patients involved in the study.

Miklós Fagyas (545422)
Katalin Úri (545423)
Ivetta M. Siket (545424)
Andrea Daragó (545425)
Judit Boczán (481521)
Emese Bányai (545426)
István Édes (481522)
Zoltán Papp (5656855)
Attila Tóth (2847734)

April 2014

<p>Clinical parameters and the genotype of the patients involved in the study.</p

Association between clinic-pathological features and EC patients stratified by genetic mutational profiles.

Tomoko Haruma (4764213)
Takeshi Nagasaka (8474)
Keiichiro Nakamura (4764207)
Junko Haraga (4764204)
Akihiro Nyuya (4764216)
Takeshi Nishida (703341)
Ajay Goel (130080)
Hisashi Masuyama (541901)
Yuji Hiramatsu (541902)

April 2018

<p>Association between clinic-pathological features and EC patients stratified by genetic mutational...

Genetic variants reported as benign in MITOMAP detected in 100 patients tested.

Paula I. Buonfiglio (14675277)
Sebastián Menazzi (14675280)
Liliana Francipane (14675283)
Vanesa Lotersztein (9340034)
Verónica Ferreiro (14675286)
Ana Belén Elgoyhen (14076752)
Viviana Dalamón (14675289)

February 2023

Genetic variants reported as benign in MITOMAP detected in 100 patients tested.</p

Clinical, pathological and familial features of the patients included in this study.

María Arriba (6707465)
Carmen Sánchez (6707468)
Alfredo Vivas (6707471)
OA Nutu (6707474)
Daniel Rueda (4567966)
Sandra Tapial (6707477)
Yolanda Rodríguez (160657)
Lorena Brandáriz (6707480)
Juan L. García (343705)
Damián García-Olmo (6707483)
Ajay Goel (130080)
Rogelio González-Sarmiento (461183)
Miguel Urioste (347065)
José Perea (5598263)

May 2019

Clinical, pathological and familial features of the patients included in this study.</p