Clinical features of three families carrying pathogenic NOTCH1 mutations.

Characterizing NOTCH1 PEST domain mutations in Triple Negative Breast Cancer

Cravero, Karen C

July 2019

About 20% of newly diagnosed breast cancers are classified as triple negative breast cancer (TNBC). ...

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

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

Clinical features of affected individuals from family 9000114 with a new mutation in the TRMT1 gene and from family M300 previously reported (Najmabadi et al., 2011).

Behzad Davarniya (787914)
Hao Hu (111737)
Kimia Kahrizi (290032)
Luciana Musante (787915)
Zohreh Fattahi (787916)
Masoumeh Hosseini (787917)
Fariba Maqsoud (787918)
Reza Farajollahi (787919)
Thomas F. Wienker (787920)
H. Hilger Ropers (787921)
Hossein Najmabadi (290031)

August 2015

Clinical features of affected individuals from family 9000114 with a new mutation in the TRMT1...

NOTCH1 mutations in three independent families.

Christoph Preuss (164736)
Melanie Capredon (3228459)
Florian Wünnemann (3228471)
Philippe Chetaille (137777)
Andrea Prince (3228468)
Beatrice Godard (2742439)
Severine Leclerc (3228465)
Nara Sobreira (3228462)
Hua Ling (235402)
Philip Awadalla (21228)
Maryse Thibeault (137772)
Paul Khairy (137782)
Mark E. Samuels (243000)
Gregor Andelfinger (137816)

October 2016

(A) Pedigrees of families harboring high impact NOTCH1 mutations. Colors represent ...

Clinical features of affected family members associated with WFS1 mutations found in this study.

Masafumi Kobayashi (2713501)
Maiko Miyagawa (311859)
Shin-ya Nishio (181068)
Hideaki Moteki (3120018)
Taro Fujikawa (4952182)
Kenji Ohyama (4031246)
Hirofumi Sakaguchi (4952167)
Ikuyo Miyanohara (4952176)
Akiko Sugaya (4952170)
Yasushi Naito (533644)
Shin-ya Morita (245989)
Yukihiko Kanda (4952173)
Masahiro Takahashi (71299)
Kotaro Ishikawa (415159)
Yuki Nagano (2692117)
Tetsuya Tono (533640)
Chie Oshikawa (415162)
Chiharu Kihara (4952179)
Haruo Takahashi (3896227)
Yoshihiro Noguchi (730399)
Shin-ichi Usami (181067)

March 2018

Clinical features of affected family members associated with WFS1 mutations found in this ...

Missense mutations and the resultant phenotypes observed in the families described in the present study.

Syed Irfan Raza (614587)
Dost Muhammad (614588)
Abid Jan (614589)
Raja Hussain Ali (614590)
Mubashir Hassan (614591)
Wasim Ahmad (36431)
Sajid Rashid (277111)

August 2014

Missense mutations and the resultant phenotypes observed in the families described in the present...

Summary of the diagnosed families in this study.

Marta de Castro-Miró (582580)
Esther Pomares (290270)
Laura Lorés-Motta (582581)
Raul Tonda (447826)
Joaquín Dopazo (1888828)
Gemma Marfany (342)
Roser Gonzàlez-Duarte (341)

February 2014

For each family, the phenotype, inheritance model, the altered gene, the identified mutation, the...

Characteristics of patients with a NOTCH3 mutation.

Laura L. Kilarski (178120)
Loes C. A. Rutten-Jacobs (513890)
Steve Bevan (480889)
Rob Baker (787125)
Ahamad Hassan (787126)
Derralynn A. Hughes (217556)
Hugh S. Markus (366687)

August 2015

Abbreviations: WMH, white matter hyperintensities; NA, not available.Characteristics of pa...

Distribution of pathogenic/likely pathogenic mutations with respect to family history, age at diagnosis and first cancer at diagnosis.

Pi-Lin Sung (4479589)
Kuo-Chang Wen (4479583)
Yi-Jen Chen (110805)
Ta-Chung Chao (526531)
Yi-Fang Tsai (526528)
Ling-Ming Tseng (526534)
Jian-Tai Timothy Qiu (4479586)
Kuan-Chong Chao (4479592)
Hua-Hsi Wu (751955)
Chi-Mu Chuang (3573335)
Peng-Hui Wang (329082)
Chi-Ying F. Huang (197633)

September 2017

Distribution of pathogenic/likely pathogenic mutations with respect to family history, age at dia...

Candidate list of genes with predicted mutations in Family A and Family B.

Daneil Feldmann (13919159)
Christian D. Bope (12917528)
Jon Patricios (13919162)
Emile R. Chimusa (6741713)
Malcolm Collins (809758)
Alison V. September (5896754)

October 2022

Genes in bold depict predicted pathogenic mutations shared in Family A and B. (DOCX)</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

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

Clinical and pathological features.

Alon Peled (2697427)
Ofer Sarig (2697442)
Liat Samuelov (3219600)
Marta Bertolini (564966)
Limor Ziv (3219606)
Daphna Weissglas-Volkov (847772)
Marina Eskin-Schwartz (3219609)
Christopher A. Adase (1967131)
Natalia Malchin (3219591)
Ron Bochner (2697433)
Gilad Fainberg (3219594)
Ilan Goldberg (2697439)
Koji Sugawara (347231)
Avital Baniel (3219597)
Daisuke Tsuruta (618823)
Chen Luxenburg (273798)
Noam Adir (55633)
Olivier Duverger (3219612)
Maria Morasso (3219603)
Stavit Shalev (2578177)
Richard L. Gallo (39300)
Noam Shomron (86157)
Ralf Paus (261703)
Eli Sprecher (251645)

October 2016

(a) Family pedigrees are presented in the upper panels. Black symbols denote affected individuals...

Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with hereditary VUR.

Zsuzsa I. Bartik (14164849)
Ulla Sillén (14164852)
Anna Djos (103682)
Anna Lindholm (3066531)
Susanne Fransson (12111435)

November 2022

Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with ...

Family specific and characteristic virulence factor SNP mutations of the Manila family of Mtb.Family specific virulence factor mutations of the Manila family, non-silent.

Kent Koster (3916520)
Angela Largen (5545592)
Jeffrey T. Foster (164257)
Kevin P. Drees (3192624)
Lishi Qian (3916529)
Edward P. Desmond (5545589)
Xuehua Wan (475915)
Shaobin Hou (475914)
James T. Douglas (3916523)

July 2018

Family specific and characteristic virulence factor SNP mutations of the Manila family of Mtb<...

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

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

Characterizing NOTCH1 PEST domain mutations in Triple Negative Breast Cancer

Cravero, Karen C

July 2019

About 20% of newly diagnosed breast cancers are classified as triple negative breast cancer (TNBC). ...

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

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

Clinical features of affected individuals from family 9000114 with a new mutation in the TRMT1 gene and from family M300 previously reported (Najmabadi et al., 2011).

Behzad Davarniya (787914)
Hao Hu (111737)
Kimia Kahrizi (290032)
Luciana Musante (787915)
Zohreh Fattahi (787916)
Masoumeh Hosseini (787917)
Fariba Maqsoud (787918)
Reza Farajollahi (787919)
Thomas F. Wienker (787920)
H. Hilger Ropers (787921)
Hossein Najmabadi (290031)

August 2015

Clinical features of affected individuals from family 9000114 with a new mutation in the TRMT1...

NOTCH1 mutations in three independent families.

Christoph Preuss (164736)
Melanie Capredon (3228459)
Florian Wünnemann (3228471)
Philippe Chetaille (137777)
Andrea Prince (3228468)
Beatrice Godard (2742439)
Severine Leclerc (3228465)
Nara Sobreira (3228462)
Hua Ling (235402)
Philip Awadalla (21228)
Maryse Thibeault (137772)
Paul Khairy (137782)
Mark E. Samuels (243000)
Gregor Andelfinger (137816)

October 2016

(A) Pedigrees of families harboring high impact NOTCH1 mutations. Colors represent ...

Clinical features of affected family members associated with WFS1 mutations found in this study.

Masafumi Kobayashi (2713501)
Maiko Miyagawa (311859)
Shin-ya Nishio (181068)
Hideaki Moteki (3120018)
Taro Fujikawa (4952182)
Kenji Ohyama (4031246)
Hirofumi Sakaguchi (4952167)
Ikuyo Miyanohara (4952176)
Akiko Sugaya (4952170)
Yasushi Naito (533644)
Shin-ya Morita (245989)
Yukihiko Kanda (4952173)
Masahiro Takahashi (71299)
Kotaro Ishikawa (415159)
Yuki Nagano (2692117)
Tetsuya Tono (533640)
Chie Oshikawa (415162)
Chiharu Kihara (4952179)
Haruo Takahashi (3896227)
Yoshihiro Noguchi (730399)
Shin-ichi Usami (181067)

March 2018

Clinical features of affected family members associated with WFS1 mutations found in this ...

Missense mutations and the resultant phenotypes observed in the families described in the present study.

Syed Irfan Raza (614587)
Dost Muhammad (614588)
Abid Jan (614589)
Raja Hussain Ali (614590)
Mubashir Hassan (614591)
Wasim Ahmad (36431)
Sajid Rashid (277111)

August 2014

Missense mutations and the resultant phenotypes observed in the families described in the present...

Summary of the diagnosed families in this study.

Marta de Castro-Miró (582580)
Esther Pomares (290270)
Laura Lorés-Motta (582581)
Raul Tonda (447826)
Joaquín Dopazo (1888828)
Gemma Marfany (342)
Roser Gonzàlez-Duarte (341)

February 2014

For each family, the phenotype, inheritance model, the altered gene, the identified mutation, the...

Characteristics of patients with a NOTCH3 mutation.

Laura L. Kilarski (178120)
Loes C. A. Rutten-Jacobs (513890)
Steve Bevan (480889)
Rob Baker (787125)
Ahamad Hassan (787126)
Derralynn A. Hughes (217556)
Hugh S. Markus (366687)

August 2015

Abbreviations: WMH, white matter hyperintensities; NA, not available.Characteristics of pa...

Distribution of pathogenic/likely pathogenic mutations with respect to family history, age at diagnosis and first cancer at diagnosis.

Pi-Lin Sung (4479589)
Kuo-Chang Wen (4479583)
Yi-Jen Chen (110805)
Ta-Chung Chao (526531)
Yi-Fang Tsai (526528)
Ling-Ming Tseng (526534)
Jian-Tai Timothy Qiu (4479586)
Kuan-Chong Chao (4479592)
Hua-Hsi Wu (751955)
Chi-Mu Chuang (3573335)
Peng-Hui Wang (329082)
Chi-Ying F. Huang (197633)

September 2017

Distribution of pathogenic/likely pathogenic mutations with respect to family history, age at dia...

Candidate list of genes with predicted mutations in Family A and Family B.

Daneil Feldmann (13919159)
Christian D. Bope (12917528)
Jon Patricios (13919162)
Emile R. Chimusa (6741713)
Malcolm Collins (809758)
Alison V. September (5896754)

October 2022

Genes in bold depict predicted pathogenic mutations shared in Family A and B. (DOCX)</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

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

Clinical and pathological features.

Alon Peled (2697427)
Ofer Sarig (2697442)
Liat Samuelov (3219600)
Marta Bertolini (564966)
Limor Ziv (3219606)
Daphna Weissglas-Volkov (847772)
Marina Eskin-Schwartz (3219609)
Christopher A. Adase (1967131)
Natalia Malchin (3219591)
Ron Bochner (2697433)
Gilad Fainberg (3219594)
Ilan Goldberg (2697439)
Koji Sugawara (347231)
Avital Baniel (3219597)
Daisuke Tsuruta (618823)
Chen Luxenburg (273798)
Noam Adir (55633)
Olivier Duverger (3219612)
Maria Morasso (3219603)
Stavit Shalev (2578177)
Richard L. Gallo (39300)
Noam Shomron (86157)
Ralf Paus (261703)
Eli Sprecher (251645)

October 2016

(a) Family pedigrees are presented in the upper panels. Black symbols denote affected individuals...

Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with hereditary VUR.

Zsuzsa I. Bartik (14164849)
Ulla Sillén (14164852)
Anna Djos (103682)
Anna Lindholm (3066531)
Susanne Fransson (12111435)

November 2022

Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with ...

Family specific and characteristic virulence factor SNP mutations of the Manila family of Mtb.Family specific virulence factor mutations of the Manila family, non-silent.

Kent Koster (3916520)
Angela Largen (5545592)
Jeffrey T. Foster (164257)
Kevin P. Drees (3192624)
Lishi Qian (3916529)
Edward P. Desmond (5545589)
Xuehua Wan (475915)
Shaobin Hou (475914)
James T. Douglas (3916523)

July 2018

Family specific and characteristic virulence factor SNP mutations of the Manila family of Mtb<...

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

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

Characterizing NOTCH1 PEST domain mutations in Triple Negative Breast Cancer

Cravero, Karen C

July 2019

About 20% of newly diagnosed breast cancers are classified as triple negative breast cancer (TNBC). ...

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

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

Clinical features of affected individuals from family 9000114 with a new mutation in the TRMT1 gene and from family M300 previously reported (Najmabadi et al., 2011).

Behzad Davarniya (787914)
Hao Hu (111737)
Kimia Kahrizi (290032)
Luciana Musante (787915)
Zohreh Fattahi (787916)
Masoumeh Hosseini (787917)
Fariba Maqsoud (787918)
Reza Farajollahi (787919)
Thomas F. Wienker (787920)
H. Hilger Ropers (787921)
Hossein Najmabadi (290031)

August 2015

Clinical features of affected individuals from family 9000114 with a new mutation in the TRMT1...

Clinical features of three families carrying pathogenic <i>NOTCH1</i> mutations.

Abstract

Extracted data

Clinical features of three families carrying pathogenic <i>NOTCH1</i> mutations.

Abstract

Extracted data

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