Additional file 1: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Additional file 1: of Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Kristen Westenfield (5401382)
Kyriakie Sarafoglou (5401379)
Laura Speltz (5401388)
Elizabeth Pierpont (5401394)
Joan Steyermark (5401376)
David Nascene (5401385)
Matthew Bower (487566)
Mary Pierpont (5401391)

June 2018

Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth
Dhairya Pancholi
Mehul Mistri
Payal Nath
Chitra Ankleshwaria
Riddhi Bhavsar
Ratna Puri
Shubha Phadke
Frenny Sheth

October 2018

Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased a...

Additional file 1: of Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Jonas Henn (6258308)
Isabel Spier (4632118)
Ronja S. Adam (6258311)
Stefanie Holzapfel (6258314)
Siegfried Uhlhaas (6258317)
Katrin Kayser (6258320)
Guido Plotz (22851)
Sophia Peters (4632115)
Stefan Aretz (4632109)

January 2019

Table S1. List of all 64 patients with known germline mutationsâ=âgroup K. With the exception of...

Additional file 3: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

Population screening of the c.1448T>C (Leu444Pro) variant. The screening identified two carriers of ...

Additional file 4: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

ClinVar Accession ID of the variants generated in the given study. The variants identified through S...

Additional file 2: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

In silico analysis of the functional effect of the variants identified in the adult patients with ty...

Additional file 4: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

ClinVar Accession ID of the variants generated in the given study. The variants identified through S...

Additional file 2: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

Biochemical analysis of the Gaucher Disease patients. The plasma chitotriosidase enzyme activity and...

Additional file 3: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

In silico analysis of the functional effect of the variants identified in the patients with Gaucher ...

Additional file 1: of Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

Jayesh Sheth (318977)
Mehul Mistri (318964)
Riddhi Bhavsar (5211767)
Dhairya Pancholi (5211761)
Mahesh Kamate (6080429)
Neerja Gupta (53651)
Madhulika Kabra (53650)
Sanjiv Mehta (6080432)
Sheela Nampoothiri (5229311)
Arpita Thakker (6080435)
Vivek Jain (310927)
Raju Shah (4535845)
Frenny Sheth (318968)

December 2018

List of primers used for PPT1 and TPP1 gene sequencing. The exons and the exon-intron boundaries of ...

Additional file 1: of GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report

Daniela Mendes-de-Almeida (6649133)
Francianne Andrade (6649136)
Gustavo Borges (4620172)
Filipe Santos-Bueno (6649139)
Iracema Vieira (6649142)
Luana da Rocha (6649145)
Daniella Mendes-da-Cruz (6649148)
Rosely ZancopĂŠ-Oliveira (6649154)
Rodrigo Calado (591227)
Maria Pombo-de-Oliveira (6649151)

April 2019

Table S1. GATA2 and ASXL1 genes conditions, oligoprimers and sequences and PCR conditions for Sanger...

Additional file 2: of Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

Vikas Bansal (79044)
Johann Gassenhuber (2893028)
Tierney Phillips (4664332)
Glenn Oliveira (727212)
Rebecca Harbaugh (4664329)
Nikki Villarasa (71214)
Eric Topol (4664335)
Thomas Seufferlein (232037)
Bernhard Boehm (486686)

December 2017

Supplementary Methods: Description of methods for pooled variant calling, gene-level tests for rare ...

Additional file 1: Table S1. of Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

Daniel Garcia (348924)
JosĂŠ Camelo (3466388)
Greice Molfetta (3466373)
Marlene Turcato (3466370)
Carolina Souza (3466364)
Gilda Porta (3466358)
Carlos Steiner (3466355)
Wilson Silva (3466361)

May 2016

Primer information to sequencing all coding regions of the genes GALT andGALK1. Table S2. results of...

Additional file 1: of Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer

Jean Diop (6670469)
Rokhaya Diallo (6670472)
Violaine Bourdon-Huguenin (6670475)
Ahmadou Dem (6670478)
Doudou Diouf (6670481)
Mamadou Dieng (6670484)
Seydi Ba (6670487)
Yacouba Dia (6670490)
Sidy Ka (6670493)
Babacar Mbengue (2742007)
Alassane Thiam (6670496)
Oumar Faye (32488)
Papa Diop (6670499)
Hagay Sobol (91961)
Alioune Dieye (377824)

May 2019

Ndiaye R BRCA2 Supplementary Material. Table S1 Primers used for BRCA1 coding exons PCR amplificatio...

Additional file 2: of Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia

Xiao-dan Long (5572244)
Jing Xiong (218613)
Zhao-hui Mo (5572247)
Chang-sheng Dong (5572250)
Ping Jin (30857)

July 2018

Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...

Additional file 1: of Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Kristen Westenfield (5401382)
Kyriakie Sarafoglou (5401379)
Laura Speltz (5401388)
Elizabeth Pierpont (5401394)
Joan Steyermark (5401376)
David Nascene (5401385)
Matthew Bower (487566)
Mary Pierpont (5401391)

June 2018

Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth
Dhairya Pancholi
Mehul Mistri
Payal Nath
Chitra Ankleshwaria
Riddhi Bhavsar
Ratna Puri
Shubha Phadke
Frenny Sheth

October 2018

Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased a...

Additional file 1: of Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Jonas Henn (6258308)
Isabel Spier (4632118)
Ronja S. Adam (6258311)
Stefanie Holzapfel (6258314)
Siegfried Uhlhaas (6258317)
Katrin Kayser (6258320)
Guido Plotz (22851)
Sophia Peters (4632115)
Stefan Aretz (4632109)

January 2019

Table S1. List of all 64 patients with known germline mutationsâ=âgroup K. With the exception of...

Additional file 3: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

Population screening of the c.1448T>C (Leu444Pro) variant. The screening identified two carriers of ...

Additional file 4: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

ClinVar Accession ID of the variants generated in the given study. The variants identified through S...

Additional file 2: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth (318977)
Dhairya Pancholi (5211761)
Mehul Mistri (318964)
Payal Nath (5809085)
Chitra Ankleshwaria (5809088)
Riddhi Bhavsar (5211767)
Ratna Puri (5808920)
Shubha Phadke (5482676)
Frenny Sheth (318968)

October 2018

In silico analysis of the functional effect of the variants identified in the adult patients with ty...

Additional file 4: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

ClinVar Accession ID of the variants generated in the given study. The variants identified through S...

Additional file 2: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

Biochemical analysis of the Gaucher Disease patients. The plasma chitotriosidase enzyme activity and...

Additional file 3: of Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth (318977)
Riddhi Bhavsar (5211767)
Mehul Mistri (318964)
Dhairya Pancholi (5211761)
Ashish Bavdekar (6339689)
Ashwin Dalal (840884)
Prajnya Ranganath (6339692)
Katta M Girisha (6339695)
Anju Shukla (2607751)
Shubha Phadke (5482676)
Ratna Puri (5808920)
Inusha Panigrahi (624684)
Anupriya Kaur (6339698)
Mamta Muranjan (6339701)
Manisha Goyal (6339704)
Radha Ramadevi (6339707)
Raju Shah (4535845)
Sheela Nampoothiri (5229311)
Sumita Danda (6339710)
Chaitanya Datar (6339713)
Seema Kapoor (6339716)
Seema Bhatwadekar (6339719)
Frenny Sheth (318968)

February 2019

In silico analysis of the functional effect of the variants identified in the patients with Gaucher ...

Additional file 1: of Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

Jayesh Sheth (318977)
Mehul Mistri (318964)
Riddhi Bhavsar (5211767)
Dhairya Pancholi (5211761)
Mahesh Kamate (6080429)
Neerja Gupta (53651)
Madhulika Kabra (53650)
Sanjiv Mehta (6080432)
Sheela Nampoothiri (5229311)
Arpita Thakker (6080435)
Vivek Jain (310927)
Raju Shah (4535845)
Frenny Sheth (318968)

December 2018

List of primers used for PPT1 and TPP1 gene sequencing. The exons and the exon-intron boundaries of ...

Additional file 1: of GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report

Daniela Mendes-de-Almeida (6649133)
Francianne Andrade (6649136)
Gustavo Borges (4620172)
Filipe Santos-Bueno (6649139)
Iracema Vieira (6649142)
Luana da Rocha (6649145)
Daniella Mendes-da-Cruz (6649148)
Rosely ZancopĂŠ-Oliveira (6649154)
Rodrigo Calado (591227)
Maria Pombo-de-Oliveira (6649151)

April 2019

Table S1. GATA2 and ASXL1 genes conditions, oligoprimers and sequences and PCR conditions for Sanger...

Additional file 2: of Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

Vikas Bansal (79044)
Johann Gassenhuber (2893028)
Tierney Phillips (4664332)
Glenn Oliveira (727212)
Rebecca Harbaugh (4664329)
Nikki Villarasa (71214)
Eric Topol (4664335)
Thomas Seufferlein (232037)
Bernhard Boehm (486686)

December 2017

Supplementary Methods: Description of methods for pooled variant calling, gene-level tests for rare ...

Additional file 1: Table S1. of Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

Daniel Garcia (348924)
JosĂŠ Camelo (3466388)
Greice Molfetta (3466373)
Marlene Turcato (3466370)
Carolina Souza (3466364)
Gilda Porta (3466358)
Carlos Steiner (3466355)
Wilson Silva (3466361)

May 2016

Primer information to sequencing all coding regions of the genes GALT andGALK1. Table S2. results of...

Additional file 1: of Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer

Jean Diop (6670469)
Rokhaya Diallo (6670472)
Violaine Bourdon-Huguenin (6670475)
Ahmadou Dem (6670478)
Doudou Diouf (6670481)
Mamadou Dieng (6670484)
Seydi Ba (6670487)
Yacouba Dia (6670490)
Sidy Ka (6670493)
Babacar Mbengue (2742007)
Alassane Thiam (6670496)
Oumar Faye (32488)
Papa Diop (6670499)
Hagay Sobol (91961)
Alioune Dieye (377824)

May 2019

Ndiaye R BRCA2 Supplementary Material. Table S1 Primers used for BRCA1 coding exons PCR amplificatio...

Additional file 2: of Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia

Xiao-dan Long (5572244)
Jing Xiong (218613)
Zhao-hui Mo (5572247)
Chang-sheng Dong (5572250)
Ping Jin (30857)

July 2018

Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...

Additional file 1: of Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Kristen Westenfield (5401382)
Kyriakie Sarafoglou (5401379)
Laura Speltz (5401388)
Elizabeth Pierpont (5401394)
Joan Steyermark (5401376)
David Nascene (5401385)
Matthew Bower (487566)
Mary Pierpont (5401391)

June 2018

Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next gene...

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth
Dhairya Pancholi
Mehul Mistri
Payal Nath
Chitra Ankleshwaria
Riddhi Bhavsar
Ratna Puri
Shubha Phadke
Frenny Sheth

October 2018

Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased a...

Additional file 1: of Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Jonas Henn (6258308)
Isabel Spier (4632118)
Ronja S. Adam (6258311)
Stefanie Holzapfel (6258314)
Siegfried Uhlhaas (6258317)
Katrin Kayser (6258320)
Guido Plotz (22851)
Sophia Peters (4632115)
Stefan Aretz (4632109)

January 2019

Table S1. List of all 64 patients with known germline mutationsâ=âgroup K. With the exception of...

Additional file 1: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Abstract

Extracted data

Additional file 1: of Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Abstract

Extracted data

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