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Breakdown of 142 patients categorized by the type of mutations/variants in comprehensive genomic analysis.

January 2016

<p>Numerals in each colored box indicate the number of patients. Patients harboring multiple variant...

Summary of mutations and homozygous deletion in the 47 cases of GBC patients.

Takashi Hirosawa (5931845)
Masaharu Ishida (126995)
Kentaro Ishii (127917)
Keigo Kanehara (5931848)
Katsuyoshi Kudo (5931851)
Shinobu Ohnuma (223071)
Takashi Kamei (1800613)
Fuyuhiko Motoi (518977)
Takeshi Naitoh (518978)
Florin M. Selaru (127013)
Michiaki Unno (518981)

November 2018

Summary of mutations and homozygous deletion in the 47 cases of GBC patients.</p

Difference in the incidence of YMDD mutation between patients with HBV genotype B and genotype C.

Youwen Tan (175489)
Keqin Ding (175492)
Jing Su (23377)
Xuan Trinh (175496)
Zhihang Peng (175499)
Yuhua Gong (175503)
Li Chen (5749)
Qian Cui (175507)
Na Lei (175513)
Xin Chen (14149)
Rongbin Yu (175518)

March 2012

<p>Difference in the incidence of YMDD mutation between patients with HBV genotype B and genotype C....

Details of patients carrying mutations in two or more genes.

Xiaochen Yang (732559)
Jiong Wu (87147)
Jingsong Lu (732560)
Guangyu Liu (521835)
Genhong Di (521834)
Canming Chen (149245)
Yifeng Hou (732561)
Menghong Sun (330318)
Wentao Yang (205781)
Xiaojing Xu (28731)
Ying Zhao (16546)
Xin Hu (38924)
Daqiang Li (732562)
Zhigang Cao (285511)
Xiaoyan Zhou (228434)
Xiaoyan Huang (112885)
Zhebin Liu (495475)
Huan Chen (6545)
Yanzi Gu (732563)
Yayun Chi (732564)
Xia Yan (190535)
Qixia Han (732565)
Zhenzhou Shen (218238)
Zhimin Shao (218240)
Zhen Hu (394758)

April 2015

<p>Mutation nomenclature follows the recommended guidelines of the Human Genome Variation Society wi...

List of tested variants.

Pawel Domagala (756050)
Anna Jakubowska (146752)
Katarzyna Jaworska-Bieniek (547065)
Katarzyna Kaczmarek (756051)
Katarzyna Durda (146758)
Agnieszka Kurlapska (756052)
Cezary Cybulski (196608)
Jan Lubinski (59925)

June 2015

<p><sup>1</sup>Mutation type according to the HGVS nomenclature</p><p>List of tested variants.</p

Mutation profiles, laboratory, and clinical data of for patients with PC deficiency.

Liang Tang (48583)
Tao Guo (126667)
Rui Yang (293531)
Heng Mei (325433)
Huafang Wang (325435)
Xuan Lu (325437)
Jianming Yu (102511)
Qingyun Wang (325438)
Yu Hu (126677)

February 2013

<p>Mutations were designated according to the HGVS nomenclature for variants, comparing with the NCB...

Difference in the incidence of YMDD mutation between HBeAg positive and HBeAg negative patients.

Youwen Tan (175489)
Keqin Ding (175492)
Jing Su (23377)
Xuan Trinh (175496)
Zhihang Peng (175499)
Yuhua Gong (175503)
Li Chen (5749)
Qian Cui (175507)
Na Lei (175513)
Xin Chen (14149)
Rongbin Yu (175518)

March 2012

<p>Difference in the incidence of YMDD mutation between HBeAg positive and HBeAg negative patients.<...

Mutations identified using next generation sequencing as stratified by the European society of medical oncology scale for clinical actionability of molecular targets guidelines.

Udit Nindra (17101646)
Abhijit Pal (2389504)
Vivienne Lea (5712518)
Stephanie Hui-Su Lim (17101649)
Kate Wilkinson (16955033)
Ray Asghari (17101652)
Tara L. Roberts (8670354)
Therese M. Becker (6316550)
Mahtab Farzin (3178062)
Tristan Rutland (17101655)
Mark Lee (379836)
Scott MacKenzie (12537778)
Weng Ng (3387398)
Bin Wang (30851)
C. Soon Lee (3387407)
Wei Chua (3387395)

October 2023

Mutations identified using next generation sequencing as stratified by the European society of medic...

Summary of the pathogenic mutations detected and family history of the probands.

Maria A. Loizidou (545998)
Ioanna Neophytou (545996)
Demetris Papamichael (617190)
Panteleimon Kountourakis (62255)
Vassilios Vassiliou (617191)
Yiola Marcou (617192)
Eleni Kakouri (617193)
Georgios Ioannidis (617194)
Chrystalla Philippou (617195)
Elena Spanou (617196)
George A. Tanteles (617197)
Violetta Anastasiadou (545997)
Andreas Hadjisavvas (4756)
Kyriacos Kyriacou (4755)

August 2014

+<p>Mutation nomenclature according to NM_000249.3 (<i>MLH1</i>), NM_000251.2 (<i>MSH2</i>) and NM_0...

Natural history of patients with MMIHS due to <i>ACTG2 de novo</i> mutations.

Michael F. Wangler (544124)
Claudia Gonzaga-Jauregui (269566)
Tomasz Gambin (39373)
Samantha Penney (544125)
Timothy Moss (544126)
Atul Chopra (544127)
Frank J. Probst (256177)
Fan Xia (219575)
Yaping Yang (292220)
Steven Werlin (544128)
Ieva Eglite (544129)
Liene Kornejeva (544130)
Carlos A. Bacino (273553)
Dustin Baldridge (249058)
Jeff Neul (544131)
Efrat Lev Lehman (544132)
Austin Larson (544133)
Joke Beuten (544134)
Donna M. Muzny (133600)
Shalini Jhangiani (544135)
Richard A. Gibbs (94141)
James R. Lupski (6678)
Arthur Beaudet (544136)

March 2014

<p>Natural history of patients with MMIHS due to <i>ACTG2 de novo</i> mutations.</p

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)

July 2017

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

Breakdown of 142 patients categorized by the type of mutations/variants in comprehensive genomic analysis.

January 2016

<p>Numerals in each colored box indicate the number of patients. Patients harboring multiple variant...

Summary of mutations and homozygous deletion in the 47 cases of GBC patients.

Takashi Hirosawa (5931845)
Masaharu Ishida (126995)
Kentaro Ishii (127917)
Keigo Kanehara (5931848)
Katsuyoshi Kudo (5931851)
Shinobu Ohnuma (223071)
Takashi Kamei (1800613)
Fuyuhiko Motoi (518977)
Takeshi Naitoh (518978)
Florin M. Selaru (127013)
Michiaki Unno (518981)

November 2018

Summary of mutations and homozygous deletion in the 47 cases of GBC patients.</p

Difference in the incidence of YMDD mutation between patients with HBV genotype B and genotype C.

Youwen Tan (175489)
Keqin Ding (175492)
Jing Su (23377)
Xuan Trinh (175496)
Zhihang Peng (175499)
Yuhua Gong (175503)
Li Chen (5749)
Qian Cui (175507)
Na Lei (175513)
Xin Chen (14149)
Rongbin Yu (175518)

March 2012

<p>Difference in the incidence of YMDD mutation between patients with HBV genotype B and genotype C....

Details of patients carrying mutations in two or more genes.

Xiaochen Yang (732559)
Jiong Wu (87147)
Jingsong Lu (732560)
Guangyu Liu (521835)
Genhong Di (521834)
Canming Chen (149245)
Yifeng Hou (732561)
Menghong Sun (330318)
Wentao Yang (205781)
Xiaojing Xu (28731)
Ying Zhao (16546)
Xin Hu (38924)
Daqiang Li (732562)
Zhigang Cao (285511)
Xiaoyan Zhou (228434)
Xiaoyan Huang (112885)
Zhebin Liu (495475)
Huan Chen (6545)
Yanzi Gu (732563)
Yayun Chi (732564)
Xia Yan (190535)
Qixia Han (732565)
Zhenzhou Shen (218238)
Zhimin Shao (218240)
Zhen Hu (394758)

April 2015

<p>Mutation nomenclature follows the recommended guidelines of the Human Genome Variation Society wi...

Difference in the incidence of YMDD mutation between HBeAg positive and HBeAg negative patients.

Youwen Tan (175489)
Keqin Ding (175492)
Jing Su (23377)
Xuan Trinh (175496)
Zhihang Peng (175499)
Yuhua Gong (175503)
Li Chen (5749)
Qian Cui (175507)
Na Lei (175513)
Xin Chen (14149)
Rongbin Yu (175518)

March 2012

<p>Difference in the incidence of YMDD mutation between HBeAg positive and HBeAg negative patients.<...

Mutations identified using next generation sequencing as stratified by the European society of medical oncology scale for clinical actionability of molecular targets guidelines.

Udit Nindra (17101646)
Abhijit Pal (2389504)
Vivienne Lea (5712518)
Stephanie Hui-Su Lim (17101649)
Kate Wilkinson (16955033)
Ray Asghari (17101652)
Tara L. Roberts (8670354)
Therese M. Becker (6316550)
Mahtab Farzin (3178062)
Tristan Rutland (17101655)
Mark Lee (379836)
Scott MacKenzie (12537778)
Weng Ng (3387398)
Bin Wang (30851)
C. Soon Lee (3387407)
Wei Chua (3387395)

October 2023

Mutations identified using next generation sequencing as stratified by the European society of medic...

Summary of the pathogenic mutations detected and family history of the probands.

Maria A. Loizidou (545998)
Ioanna Neophytou (545996)
Demetris Papamichael (617190)
Panteleimon Kountourakis (62255)
Vassilios Vassiliou (617191)
Yiola Marcou (617192)
Eleni Kakouri (617193)
Georgios Ioannidis (617194)
Chrystalla Philippou (617195)
Elena Spanou (617196)
George A. Tanteles (617197)
Violetta Anastasiadou (545997)
Andreas Hadjisavvas (4756)
Kyriacos Kyriacou (4755)

August 2014

+<p>Mutation nomenclature according to NM_000249.3 (<i>MLH1</i>), NM_000251.2 (<i>MSH2</i>) and NM_0...

Natural history of patients with MMIHS due to <i>ACTG2 de novo</i> mutations.

Michael F. Wangler (544124)
Claudia Gonzaga-Jauregui (269566)
Tomasz Gambin (39373)
Samantha Penney (544125)
Timothy Moss (544126)
Atul Chopra (544127)
Frank J. Probst (256177)
Fan Xia (219575)
Yaping Yang (292220)
Steven Werlin (544128)
Ieva Eglite (544129)
Liene Kornejeva (544130)
Carlos A. Bacino (273553)
Dustin Baldridge (249058)
Jeff Neul (544131)
Efrat Lev Lehman (544132)
Austin Larson (544133)
Joke Beuten (544134)
Donna M. Muzny (133600)
Shalini Jhangiani (544135)
Richard A. Gibbs (94141)
James R. Lupski (6678)
Arthur Beaudet (544136)

March 2014

<p>Natural history of patients with MMIHS due to <i>ACTG2 de novo</i> mutations.</p

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)

July 2017

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

Breakdown of 142 patients categorized by the type of mutations/variants in comprehensive genomic analysis.

January 2016

<p>Numerals in each colored box indicate the number of patients. Patients harboring multiple variant...

Summary of mutations and homozygous deletion in the 47 cases of GBC patients.

Takashi Hirosawa (5931845)
Masaharu Ishida (126995)
Kentaro Ishii (127917)
Keigo Kanehara (5931848)
Katsuyoshi Kudo (5931851)
Shinobu Ohnuma (223071)
Takashi Kamei (1800613)
Fuyuhiko Motoi (518977)
Takeshi Naitoh (518978)
Florin M. Selaru (127013)
Michiaki Unno (518981)

November 2018

Summary of mutations and homozygous deletion in the 47 cases of GBC patients.</p

Difference in the incidence of YMDD mutation between patients with HBV genotype B and genotype C.

Youwen Tan (175489)
Keqin Ding (175492)
Jing Su (23377)
Xuan Trinh (175496)
Zhihang Peng (175499)
Yuhua Gong (175503)
Li Chen (5749)
Qian Cui (175507)
Na Lei (175513)
Xin Chen (14149)
Rongbin Yu (175518)

March 2012

<p>Difference in the incidence of YMDD mutation between patients with HBV genotype B and genotype C....