Additional file 1: of Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Nasser Elhawary (5078285)
Essam Jiffri (5078288)
Samira Jambi (5078270)
Ahmad Mufti (5078267)
Anas Dannoun (5078261)
Hassan Kordi (5078273)
Asim Khogeer (5078264)
Osama Jiffri (5078279)
Abdelrahman Elhawary (5078276)
Mohammed Tayeb (5078282)

Open link

Publication date

April 2018

DOI

10.6084/m9.figshare.6119513.v1

Abstract

Table S1. Oligonucleotide Sequences of 15 multiplex PCR sets and amplification size fragments. (DOCX 17Â kb

Extracted data

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Data Protection

Additional file 1: of Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Nasser Elhawary (5078285)
Essam Jiffri (5078288)
Samira Jambi (5078270)
Ahmad Mufti (5078267)
Anas Dannoun (5078261)
Hassan Kordi (5078273)
Asim Khogeer (5078264)
Osama Jiffri (5078279)
Abdelrahman Elhawary (5078276)
Mohammed Tayeb (5078282)

Open link

Publication date

April 2018

DOI

10.6084/m9.figshare.6119513.v1

Abstract

Table S1. Oligonucleotide Sequences of 15 multiplex PCR sets and amplification size fragments. (DOCX 17Â kb

Extracted data

Jean Mamelona (6682955)
Louisa Filice (6682958)
Youcef Oussedik (6682961)
Nicolas Crapoulet (81965)
Rodney Ouellette (4593262)
Alier Marrero (6682964)

May 2019

Table S1. Sequencing parameters. Table S2. Detailed information for primers used for Sanger sequenci...

Additional file 1: Table S1. of Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

Daichi Ishimaru (3495971)
Masanori Gotoh (1837816)
Shinichiro Takayama (268583)
Rika Kosaki (3495974)
Yoshihiro Matsumoto (31279)
Hisashi Narimatsu (309772)
Takashi Sato (140116)
Koji Kimata (58611)
Haruhiko Akiyama (53682)
Katsuji Shimizu (309767)
Kazu Matsumoto (3495968)

March 2016

Primer sequences for PCR amplification of the exons and exon/intron junctions of EXT1 and EXT2. (DOC...

Additional file 1: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Clinical characteristics and WES results (including evidence of pathogenicity according to ACMG crit...

Additional file 2: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
Michał Korostyński (2622910)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Lists of rare (< 1%) variants in genes related with “muscle phenotype” for individual patients. (XLS...

Additional file 3: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

List of variants in genes expressed in the human muscle and in genes whose mouse homologs are expres...

Additional file 1: of The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang (23021)
Victor Zhang (3197349)
Shaoyuan Li (122154)
Huan Li (120482)
Yiming Sun (541218)
Jing Li (10611)
Yuling Zhu (771868)
Ruojie He (4977644)
Jinfu Lin (5632655)
Cheng Zhang (70708)

August 2018

NGS protocol and the list of genes in the neuromuscular disorder panel. (DOCX 20 kb

Additional file 1: of Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Katherine Johnson (3587309)
Marta Bertoli (4418092)
Lauren Phillips (1442983)
Ana Töpf (5572253)
Peter Van den Bergh (4018520)
John Vissing (428273)
Nanna Witting (670306)
Shahriar Nafissi (547379)
Shirin Jamal-Omidi (5572256)
Anna Łusakowska (5572259)
Anna Kostera-Pruszczyk (5572262)
Anna Potulska-Chromik (679153)
Nicolas Deconinck (541626)
Carina Wallgren-Pettersson (5572265)
Sonja Strang-Karlsson (331276)
Jaume Colomer (334937)
Kristl Claeys (4018517)
Willem De Ridder (5572268)
Jonathan Baets (3745237)
Maja von der Hagen (702743)
Roberto Fernández-Torrón (5572271)
Miren Zulaica Ijurco (5572274)
Juan Espinal Valencia (5572277)
Andreas Hahn (275151)
Hacer Durmus (727114)
Tracey Willis (3902269)
Liwen Xu (1519084)
Elise Valkanas (5572280)
Thomas Mullen (5572283)
Monkol Lek (287026)
Daniel MacArthur (3577367)
Volker Straub (251869)

July 2018

Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic varian...

Additional file 5: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Selected genes with reported skeletal muscle expression which could contribute to LGMD. (DOCX 16 kb

Additional file 1: Table S1. of Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Mariko Okubo (4406713)
Kanako Goto (535848)
Hirofumi Komaki (3414734)
Harumasa Nakamura (4406716)
Madoka Mori-Yoshimura (4406719)
Yukiko Hayashi (84287)
Satomi Mitsuhashi (4406710)
Satoru Noguchi (111825)
En Kimura (227087)
Ichizo Nishino (111839)

August 2017

Clinical and dystrophin immunostaining in the patients with a small mutation. Table S2. Patients wit...

Additional file 3: of Elusive sources of variability of dystrophin rescue by exon skipping

Maria Vila (3482867)
Margaret Klimek (3482849)
James Novak (3482855)
Sree Rayavarapu (241044)
Kitipong Uaesoontrachoon (410740)
Jessica Boehler (3482873)
Alyson Fiorillo (3482870)
Marshall Hogarth (3482864)
Aiping Zhang (448556)
Conner Shaughnessy (3482852)
Heather Gordish-Dressman (54143)
Umar Burki (672234)
Volker Straub (251869)
Qi Lu (143184)
Terence Partridge (247090)
Kristy Brown (3174363)
Yetrib Hathout (350196)
John van den Anker (3482858)
Eric Hoffman (3482861)
Kanneboyina Nagaraju (241056)

December 2015

Dystrophin rescue is not preferential to a particular myofiber type. IF in serial sections were stai...

Additional file 6: Figure S2. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells

Emmanuelle Massouridès (332468)
Jérôme Polentes (3443876)
Philippe-Emmanuel Mangeot (430503)
Virginie Mournetas (3443882)
Juliette Nectoux (2742892)
Nathalie Deburgrave (3443873)
Patrick Nusbaum (659722)
France Leturcq (374621)
Linda Popplewell (3443885)
George Dickson (123905)
Nicolas Wein (3443879)
Kevin Flanigan (3443870)
Marc Peschanski (273935)
Jamel Chelly (93238)
Christian Pinset (162291)

November 2015

5′RACE reveals the presence of a novel exon 1. (a, b) Two sequences found several times by 5′RACE PC...

Additional file 2: of Elusive sources of variability of dystrophin rescue by exon skipping

Maria Vila (3482867)
Margaret Klimek (3482849)
James Novak (3482855)
Sree Rayavarapu (241044)
Kitipong Uaesoontrachoon (410740)
Jessica Boehler (3482873)
Alyson Fiorillo (3482870)
Marshall Hogarth (3482864)
Aiping Zhang (448556)
Conner Shaughnessy (3482852)
Heather Gordish-Dressman (54143)
Umar Burki (672234)
Volker Straub (251869)
Qi Lu (143184)
Terence Partridge (247090)
Kristy Brown (3174363)
Yetrib Hathout (350196)
John van den Anker (3482858)
Eric Hoffman (3482861)
Kanneboyina Nagaraju (241056)

December 2015

Intra-sample variabilityâdystrophin protein (% relative to WT). The table provides individual valu...

Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Inna Inashkina (841992)
Eriks Jankevics (3438554)
Janis Stavusis (3438551)
Inta Vasiljeva (3438545)
Kristine Viksne (3438563)
Ieva Micule (3438566)
Jurgis Strautmanis (3438557)
Maruta Naudina (3438548)
Loreta Cimbalistiene (3415880)
Vaidutis Kucinskas (3415886)
Astrida Krumina (3438560)
Algirdas Utkus (3415898)
Birute Burnyte (3415877)
Ausra Matuleviciene (3415874)
Baiba Lace (134607)

May 2016

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay...

Additional file 1: of A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

Jean Mamelona (6682955)
Louisa Filice (6682958)
Youcef Oussedik (6682961)
Nicolas Crapoulet (81965)
Rodney Ouellette (4593262)
Alier Marrero (6682964)

May 2019

Table S1. Sequencing parameters. Table S2. Detailed information for primers used for Sanger sequenci...

Additional file 1: Table S1. of Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

Daichi Ishimaru (3495971)
Masanori Gotoh (1837816)
Shinichiro Takayama (268583)
Rika Kosaki (3495974)
Yoshihiro Matsumoto (31279)
Hisashi Narimatsu (309772)
Takashi Sato (140116)
Koji Kimata (58611)
Haruhiko Akiyama (53682)
Katsuji Shimizu (309767)
Kazu Matsumoto (3495968)

March 2016

Primer sequences for PCR amplification of the exons and exon/intron junctions of EXT1 and EXT2. (DOC...

Additional file 1: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Clinical characteristics and WES results (including evidence of pathogenicity according to ACMG crit...

Additional file 2: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
Michał Korostyński (2622910)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Lists of rare (< 1%) variants in genes related with “muscle phenotype” for individual patients. (XLS...

Additional file 3: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

List of variants in genes expressed in the human muscle and in genes whose mouse homologs are expres...

Additional file 1: of The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang (23021)
Victor Zhang (3197349)
Shaoyuan Li (122154)
Huan Li (120482)
Yiming Sun (541218)
Jing Li (10611)
Yuling Zhu (771868)
Ruojie He (4977644)
Jinfu Lin (5632655)
Cheng Zhang (70708)

August 2018

NGS protocol and the list of genes in the neuromuscular disorder panel. (DOCX 20 kb

Katherine Johnson (3587309)
Marta Bertoli (4418092)
Lauren Phillips (1442983)
Ana Töpf (5572253)
Peter Van den Bergh (4018520)
John Vissing (428273)
Nanna Witting (670306)
Shahriar Nafissi (547379)
Shirin Jamal-Omidi (5572256)
Anna Łusakowska (5572259)
Anna Kostera-Pruszczyk (5572262)
Anna Potulska-Chromik (679153)
Nicolas Deconinck (541626)
Carina Wallgren-Pettersson (5572265)
Sonja Strang-Karlsson (331276)
Jaume Colomer (334937)
Kristl Claeys (4018517)
Willem De Ridder (5572268)
Jonathan Baets (3745237)
Maja von der Hagen (702743)
Roberto Fernández-Torrón (5572271)
Miren Zulaica Ijurco (5572274)
Juan Espinal Valencia (5572277)
Andreas Hahn (275151)
Hacer Durmus (727114)
Tracey Willis (3902269)
Liwen Xu (1519084)
Elise Valkanas (5572280)
Thomas Mullen (5572283)
Monkol Lek (287026)
Daniel MacArthur (3577367)
Volker Straub (251869)

July 2018

Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic varian...

Additional file 5: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Selected genes with reported skeletal muscle expression which could contribute to LGMD. (DOCX 16 kb

Additional file 1: Table S1. of Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Mariko Okubo (4406713)
Kanako Goto (535848)
Hirofumi Komaki (3414734)
Harumasa Nakamura (4406716)
Madoka Mori-Yoshimura (4406719)
Yukiko Hayashi (84287)
Satomi Mitsuhashi (4406710)
Satoru Noguchi (111825)
En Kimura (227087)
Ichizo Nishino (111839)

August 2017

Clinical and dystrophin immunostaining in the patients with a small mutation. Table S2. Patients wit...

Additional file 3: of Elusive sources of variability of dystrophin rescue by exon skipping

Maria Vila (3482867)
Margaret Klimek (3482849)
James Novak (3482855)
Sree Rayavarapu (241044)
Kitipong Uaesoontrachoon (410740)
Jessica Boehler (3482873)
Alyson Fiorillo (3482870)
Marshall Hogarth (3482864)
Aiping Zhang (448556)
Conner Shaughnessy (3482852)
Heather Gordish-Dressman (54143)
Umar Burki (672234)
Volker Straub (251869)
Qi Lu (143184)
Terence Partridge (247090)
Kristy Brown (3174363)
Yetrib Hathout (350196)
John van den Anker (3482858)
Eric Hoffman (3482861)
Kanneboyina Nagaraju (241056)

December 2015

Dystrophin rescue is not preferential to a particular myofiber type. IF in serial sections were stai...

Additional file 6: Figure S2. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells

Emmanuelle Massouridès (332468)
Jérôme Polentes (3443876)
Philippe-Emmanuel Mangeot (430503)
Virginie Mournetas (3443882)
Juliette Nectoux (2742892)
Nathalie Deburgrave (3443873)
Patrick Nusbaum (659722)
France Leturcq (374621)
Linda Popplewell (3443885)
George Dickson (123905)
Nicolas Wein (3443879)
Kevin Flanigan (3443870)
Marc Peschanski (273935)
Jamel Chelly (93238)
Christian Pinset (162291)

November 2015

5′RACE reveals the presence of a novel exon 1. (a, b) Two sequences found several times by 5′RACE PC...

Additional file 2: of Elusive sources of variability of dystrophin rescue by exon skipping

Maria Vila (3482867)
Margaret Klimek (3482849)
James Novak (3482855)
Sree Rayavarapu (241044)
Kitipong Uaesoontrachoon (410740)
Jessica Boehler (3482873)
Alyson Fiorillo (3482870)
Marshall Hogarth (3482864)
Aiping Zhang (448556)
Conner Shaughnessy (3482852)
Heather Gordish-Dressman (54143)
Umar Burki (672234)
Volker Straub (251869)
Qi Lu (143184)
Terence Partridge (247090)
Kristy Brown (3174363)
Yetrib Hathout (350196)
John van den Anker (3482858)
Eric Hoffman (3482861)
Kanneboyina Nagaraju (241056)

December 2015

Intra-sample variabilityâdystrophin protein (% relative to WT). The table provides individual valu...

Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Inna Inashkina (841992)
Eriks Jankevics (3438554)
Janis Stavusis (3438551)
Inta Vasiljeva (3438545)
Kristine Viksne (3438563)
Ieva Micule (3438566)
Jurgis Strautmanis (3438557)
Maruta Naudina (3438548)
Loreta Cimbalistiene (3415880)
Vaidutis Kucinskas (3415886)
Astrida Krumina (3438560)
Algirdas Utkus (3415898)
Birute Burnyte (3415877)
Ausra Matuleviciene (3415874)
Baiba Lace (134607)

May 2016

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay...

Additional file 1: of A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

Jean Mamelona (6682955)
Louisa Filice (6682958)
Youcef Oussedik (6682961)
Nicolas Crapoulet (81965)
Rodney Ouellette (4593262)
Alier Marrero (6682964)

May 2019

Table S1. Sequencing parameters. Table S2. Detailed information for primers used for Sanger sequenci...

Additional file 1: Table S1. of Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

Daichi Ishimaru (3495971)
Masanori Gotoh (1837816)
Shinichiro Takayama (268583)
Rika Kosaki (3495974)
Yoshihiro Matsumoto (31279)
Hisashi Narimatsu (309772)
Takashi Sato (140116)
Koji Kimata (58611)
Haruhiko Akiyama (53682)
Katsuji Shimizu (309767)
Kazu Matsumoto (3495968)

March 2016

Primer sequences for PCR amplification of the exons and exon/intron junctions of EXT1 and EXT2. (DOC...

Additional file 1: of Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Abstract

Extracted data

Additional file 1: of Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Abstract

Extracted data

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