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Distribution of mutated genes in idiopathic hypereosinophilia patients.

Jee-Soo Lee (3196419)
Heewon Seo (828266)
Kyongok Im (3396467)
Si Nae Park (3396488)
Sung-Min Kim (226036)
Eun Kyoung Lee (644077)
Jung-Ah Kim (3396485)
Joon-hee Lee (4556749)
Sunghoon Kwon (224836)
Miyoung Kim (371420)
Insong Koh (4556752)
Seungwoo Hwang (214101)
Heung-Woo Park (371423)
Hye-Ryun Kang (517016)
Kyoung Soo Park (4556755)
Ju Han Kim (10092)
Dong Soon Lee (710952)

Publication date

October 2017

DOI

10.1371/journal.pone.0185602.g003

Abstract

<p>The frequency of candidate mutations in each gene was listed for the all 16 patients with mutation positive.</p

Extracted data

Related items

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

SANTACROCE R.
ACQUILA M.
BELVINI D.
CASTALDO, GIUSEPPE
GARAGIOLA I.
GIACOMELLI S. H.
LOMBARDI A. M.
MINUTI B.
RICCARDI F.
SALVIATO R.
TAGLIABUE L.
GRANDONE E.
MARGAGLIONE M.
AICE GENETICS STUDY G.R.O.U.P.

January 2008

To provide a National database, 1,410 unrelated hemophilia A (HA) patients were investigated using s...

Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population.

Boekhorst, J.
Verbruggen, H.W.
Lavergne, J.M.
Costa, J.M.
Schoormans, S.C.M.
Brons, P.P.T.
Kraaij, M.G.J. van
Nováková, I.R.O.
Heerde, W.L. van

January 2005

Contains fulltext : 33158.pdf (publisher's version ) (Closed access)The developmen...

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Gürbüz F.
Damla Kotan L.
Mengen E.
Şiklar Z.
Berberoglu M.
Dökmetaş S.
Kiliçli M.F.

January 2012

PubMedID: 22766261Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characteri...

Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

Tuddenham, E. G. D.
Cooper, David Neil
Gitschier, J.
Higuchi, M.
Hoyer, L. W.
Yoshioka, A.
Peake, I. R.
Schwaab, R.
Olek, K.
Kazazian, H. H.
Lavergne, J. M.
Giannelli, F.
Antonarakis, S. E.

January 1991

Mutations at the factor VIII gene locus causing Haemophilia A have now been identified In many patie...

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

MARGAGLIONE M.
CASTAMAN G.
MORFINI M.
ROCINO A.
SANTAGOSTINO E.
TAGARIELLO G.
TAGLIAFERRI A.R.
ZANON E.
BICOCCHI M.P.
CASTALDO G.
PEYVANDI F.
SANTACROCE R.
TORRICELLI F.
GRANDONE E.
MANNUCCI P.M.

January 2008

The high mutational heterogeneity of Hemophilia A (HA) is a challenge for the provision of genetic s...

Distribution of risk factors that occur by gene’s mutations.

Jeanne d’Arc AlBacha (739081)
Mira Khoury (739082)
Charbel Mouawad (739083)
Katia Haddad (739084)
Samar Hamoui (739085)
Albert Azar (739086)
Ziad Fajloun (739087)
Nehman Makdissy (739088)

May 2015

<p>Co-expression of mutations by patient detected in total population of the healthy group (n = 171)...

Targeted re-sequencing of F8, F9 and VWF : characterization of Ion Torrent data and clinical implications for mutation screening.

Manderstedt, Eric
Nilsson, Rosanna
Lind-Halldén, Christina
Ljung, Rolf
Astermark, Jan
Halldén, Christer

January 2019

Mutations are not identified in ~5% of hemophilia A and 10-35% of type 1 VWD patients. The bleeding ...

Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.

Eric Manderstedt
Rosanna Nilsson
Christina Lind-Halldén
Rolf Ljung
Jan Astermark
Christer Halldén

January 2019

Mutations are not identified in ~5% of hemophilia A and 10-35% of type 1 VWD patients. The bleeding ...

The Italian AICE-Genetics hemophilia A database : results and correlation with clinical phenotype

M. Margaglione
G. Castaman
M. Morfini
A. Rocino
E. Santagostino
G. Tagariello
A. R. Tagliaferri
E. Zanon
M. P. Bicocchi
G. Castaldo
R. Santacroce
F. Torricelli
E. Grandone
AICE Genetics study group
F. Peyvandi
P.M. Mannucci

May 2008

BACKGROUND: The high mutational heterogeneity of hemophilia A is a challenge for the provision of ge...

Phenotype distribution among males and females with G6PD gene mutation according to WHO classification.

Win Lai May (6169658)
Myat Phone Kyaw (394733)
Stuart D. Blacksell (101742)
Sasithon Pukrittayakamee (101751)
Kesinee Chotivanich (140505)
Borimas Hanboonkunupakarn (571549)
Khin Nyo Thein (6169661)
Chae Seung Lim (1888042)
Janjira Thaipadungpanit (35771)
Thomas Althaus (2583208)
Podjanee Jittamala (2833355)

January 2019

Phenotype distribution among males and females with G6PD gene mutation according to WHO classificati...

Frequency distribution of mutations in HCM-causing genes.

Shiv Kumar Viswanathan (4582825)
Heather K. Sanders (4582828)
James W. McNamara (4179370)
Aravindakshan Jagadeesan (4582831)
Arshad Jahangir (309018)
A. Jamil Tajik (3689818)
Sakthivel Sadayappan (363928)

November 2017

<p>The mutation distribution in 13 of the 18 HCM causative genes based on mutation class, including ...

Spectrum of Causative Mutations in Patients with Hemophilia A in Russia

Olesya Pshenichnikova
Valentina Salomashkina
Julia Poznyakova
Daria Selivanova
Daria Chernetskaya
Elena Yakovleva
Oksana Dimitrieva
Elena Likhacheva
Farida Perina
Nadezhda Zozulya
Vadim Surin

January 2023

Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which resul...

Mol Genet Genomic Med

Hemophilia B (HB) is caused by mutations in the human gene F9. The mutation type plays a pivotal rol...

This work was supported by the CDC

Tengguo Li
Connie H. Miller
A B. Payne
W. Craig Hooper

January 2013

Hemophilia B (HB) is caused by mutations in the human gene F9. The muta-tion type plays a pivotal ro...

Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations.

Mårtensson, Annika
Letelier, A
Halldén, C
Ljung, Rolf

November 2015

Haemophilia B is caused by a heterogeneous spectrum of mutations. Mutation characterization is impor...

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

SANTACROCE R.
ACQUILA M.
BELVINI D.
CASTALDO, GIUSEPPE
GARAGIOLA I.
GIACOMELLI S. H.
LOMBARDI A. M.
MINUTI B.
RICCARDI F.
SALVIATO R.
TAGLIABUE L.
GRANDONE E.
MARGAGLIONE M.
AICE GENETICS STUDY G.R.O.U.P.

January 2008

To provide a National database, 1,410 unrelated hemophilia A (HA) patients were investigated using s...

Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population.

Boekhorst, J.
Verbruggen, H.W.
Lavergne, J.M.
Costa, J.M.
Schoormans, S.C.M.
Brons, P.P.T.
Kraaij, M.G.J. van
Nováková, I.R.O.
Heerde, W.L. van

January 2005

Contains fulltext : 33158.pdf (publisher's version ) (Closed access)The developmen...

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Gürbüz F.
Damla Kotan L.
Mengen E.
Şiklar Z.
Berberoglu M.
Dökmetaş S.
Kiliçli M.F.

January 2012

PubMedID: 22766261Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characteri...

Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

Tuddenham, E. G. D.
Cooper, David Neil
Gitschier, J.
Higuchi, M.
Hoyer, L. W.
Yoshioka, A.
Peake, I. R.
Schwaab, R.
Olek, K.
Kazazian, H. H.
Lavergne, J. M.
Giannelli, F.
Antonarakis, S. E.

January 1991

Mutations at the factor VIII gene locus causing Haemophilia A have now been identified In many patie...

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

MARGAGLIONE M.
CASTAMAN G.
MORFINI M.
ROCINO A.
SANTAGOSTINO E.
TAGARIELLO G.
TAGLIAFERRI A.R.
ZANON E.
BICOCCHI M.P.
CASTALDO G.
PEYVANDI F.
SANTACROCE R.
TORRICELLI F.
GRANDONE E.
MANNUCCI P.M.

January 2008

The high mutational heterogeneity of Hemophilia A (HA) is a challenge for the provision of genetic s...

Distribution of risk factors that occur by gene’s mutations.

Jeanne d’Arc AlBacha (739081)
Mira Khoury (739082)
Charbel Mouawad (739083)
Katia Haddad (739084)
Samar Hamoui (739085)
Albert Azar (739086)
Ziad Fajloun (739087)
Nehman Makdissy (739088)

May 2015

<p>Co-expression of mutations by patient detected in total population of the healthy group (n = 171)...

Targeted re-sequencing of F8, F9 and VWF : characterization of Ion Torrent data and clinical implications for mutation screening.

Manderstedt, Eric
Nilsson, Rosanna
Lind-Halldén, Christina
Ljung, Rolf
Astermark, Jan
Halldén, Christer

January 2019

Mutations are not identified in ~5% of hemophilia A and 10-35% of type 1 VWD patients. The bleeding ...

Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.

Eric Manderstedt
Rosanna Nilsson
Christina Lind-Halldén
Rolf Ljung
Jan Astermark
Christer Halldén

January 2019

Mutations are not identified in ~5% of hemophilia A and 10-35% of type 1 VWD patients. The bleeding ...

The Italian AICE-Genetics hemophilia A database : results and correlation with clinical phenotype

M. Margaglione
G. Castaman
M. Morfini
A. Rocino
E. Santagostino
G. Tagariello
A. R. Tagliaferri
E. Zanon
M. P. Bicocchi
G. Castaldo
R. Santacroce
F. Torricelli
E. Grandone
AICE Genetics study group
F. Peyvandi
P.M. Mannucci

May 2008

BACKGROUND: The high mutational heterogeneity of hemophilia A is a challenge for the provision of ge...

Phenotype distribution among males and females with G6PD gene mutation according to WHO classification.

Win Lai May (6169658)
Myat Phone Kyaw (394733)
Stuart D. Blacksell (101742)
Sasithon Pukrittayakamee (101751)
Kesinee Chotivanich (140505)
Borimas Hanboonkunupakarn (571549)
Khin Nyo Thein (6169661)
Chae Seung Lim (1888042)
Janjira Thaipadungpanit (35771)
Thomas Althaus (2583208)
Podjanee Jittamala (2833355)

January 2019

Phenotype distribution among males and females with G6PD gene mutation according to WHO classificati...

Frequency distribution of mutations in HCM-causing genes.

Shiv Kumar Viswanathan (4582825)
Heather K. Sanders (4582828)
James W. McNamara (4179370)
Aravindakshan Jagadeesan (4582831)
Arshad Jahangir (309018)
A. Jamil Tajik (3689818)
Sakthivel Sadayappan (363928)

November 2017

<p>The mutation distribution in 13 of the 18 HCM causative genes based on mutation class, including ...

Spectrum of Causative Mutations in Patients with Hemophilia A in Russia

Olesya Pshenichnikova
Valentina Salomashkina
Julia Poznyakova
Daria Selivanova
Daria Chernetskaya
Elena Yakovleva
Oksana Dimitrieva
Elena Likhacheva
Farida Perina
Nadezhda Zozulya
Vadim Surin

January 2023

Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which resul...

Mol Genet Genomic Med

Hemophilia B (HB) is caused by mutations in the human gene F9. The mutation type plays a pivotal rol...

This work was supported by the CDC

Tengguo Li
Connie H. Miller
A B. Payne
W. Craig Hooper

January 2013

Hemophilia B (HB) is caused by mutations in the human gene F9. The muta-tion type plays a pivotal ro...

Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations.

Mårtensson, Annika
Letelier, A
Halldén, C
Ljung, Rolf

November 2015

Haemophilia B is caused by a heterogeneous spectrum of mutations. Mutation characterization is impor...

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

SANTACROCE R.
ACQUILA M.
BELVINI D.
CASTALDO, GIUSEPPE
GARAGIOLA I.
GIACOMELLI S. H.
LOMBARDI A. M.
MINUTI B.
RICCARDI F.
SALVIATO R.
TAGLIABUE L.
GRANDONE E.
MARGAGLIONE M.
AICE GENETICS STUDY G.R.O.U.P.

January 2008

To provide a National database, 1,410 unrelated hemophilia A (HA) patients were investigated using s...

Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population.

Boekhorst, J.
Verbruggen, H.W.
Lavergne, J.M.
Costa, J.M.
Schoormans, S.C.M.
Brons, P.P.T.
Kraaij, M.G.J. van
Nováková, I.R.O.
Heerde, W.L. van

January 2005

Contains fulltext : 33158.pdf (publisher's version ) (Closed access)The developmen...

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Gürbüz F.
Damla Kotan L.
Mengen E.
Şiklar Z.
Berberoglu M.
Dökmetaş S.
Kiliçli M.F.

January 2012

PubMedID: 22766261Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characteri...