Additional file 2: of Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

Additional file 2: Table S2. of DNA alterations in Cd133+ and Cd133- tumour cells enriched from intra-operative human colon tumour biopsies

Diana Cervantes-Madrid (3864460)
Yvonne Wettergren (747172)
Peter Falk (3864457)
Kent Lundholm (727971)
Annika Asting (3864463)

March 2017

Shared deletions among CD133+ and CD133â/EpCAM+ cell fractions analyzed with inter-array analysis....

Additional file 6: Figure S6. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Susanne Boonen (3420221)
Andrea Freschi (3420212)
Rikke Christensen (32108)
Federica Valente (3420209)
Dorte Lildballe (3420215)
Lucia Perone (3420218)
Orazio Palumbo (174177)
Massimo Carella (174251)
Niels Uldbjerg (500176)
Angela Sparago (272242)
Andrea Riccio (272246)
Flavia Cerrato (272244)

June 2016

DNA methylation (top) and copy number (CN, bottom) analyses at 11p15 region in family 2, determined ...

Additional file 1: of Genomic evidence of Y chromosome microchimerism in the endometrium during endometriosis and in cases of infertility

Muzaffer Bhat (6332402)
Jai Sharma (2642710)
Kallol Roy (6332405)
Jayasree Sengupta (3476852)
Debabrata Ghosh (2434837)

February 2019

Table S1. List of genes and their primers used for quantitative PCR and qRT-PCR. (DOC 33 kb

Additional file 1: Table S1. of The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Fonseca (3505373)
Adriano Bonaldi (3505367)
Simone Fonseca (287266)
Paulo Otto (3505370)
Fernando Kok (3505364)
Mads Bak (181535)
Niels Tommerup (118532)
Angela Vianna-Morgante (3505376)

December 2015

BAC clones used as probes for chromosome 2 breakpoint mapping in the proband (III-4). (XLSX 12 kb

Additional file 2: Table S2. of Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal abnormalities

Natalia Kovaleva (4038020)
Philip Cotter (4038017)

December 2017

Mosaicism for duplications. Tabular data presenting details of carriers of mosaicism for duplication...

Additional file 2: Table S2. of Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions

Natalia Kovaleva (4038020)
Philip Cotter (4038017)

May 2017

Mosaicism for duplications. Tabular data presenting details of affected carriers of mosaicism for du...

Additional file 2: Table S2. of Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Katalin Komlosi (4801965)
Stefan Diederich (4801959)
Desiree Fend-Guella (4801962)
Oliver Bartsch (342921)
Jennifer Winter (87429)
Ulrich Zechner (212594)
Michael Beck (703654)
Peter Meyer (41793)
Susann Schweiger (87433)

January 2018

Additional variants in the couples. Additional file describing additional possibly pathogenic varian...

Additional file 3: Table S3. of The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Fonseca (3505373)
Adriano Bonaldi (3505367)
Simone Fonseca (287266)
Paulo Otto (3505370)
Fernando Kok (3505364)
Mads Bak (181535)
Niels Tommerup (118532)
Angela Vianna-Morgante (3505376)

December 2015

Primers used in qRT-PCR analysis of duplicated (LMNB1, MARCH3 and FBN2) and reference (ACTB) genes. ...

Additional file 2: Table S2. of The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Fonseca (3505373)
Adriano Bonaldi (3505367)
Simone Fonseca (287266)
Paulo Otto (3505370)
Fernando Kok (3505364)
Mads Bak (181535)
Niels Tommerup (118532)
Angela Vianna-Morgante (3505376)

December 2015

BAC and PAC clones used as probes for chromosome 22 breakpoint mapping in the proband (III-4). (XLSX...

Additional file 1: Table S1. of Biallelic modification of IL2RG leads to severe combined immunodeficiency in pigs

Jung-Taek Kang (3429896)
Bumrae Cho (304017)
Junghyun Ryu (3429890)
Caitlin Ray (3429908)
Eun-Jin Lee (2299186)
Yun-Jin Yun (3429902)
SunMi Ahn (3429899)
JinSeok Lee (3429905)
Dal-Young Ji (3429887)
Nathaniel Jue (3429884)
Sherrie Clark-Deener (550129)
Kiho Lee (1366734)
Kwang-Wook Park (3429893)

November 2016

Oligos used to introduce sgRNA into px330. Each pair of forward and reverse primers were annealing a...

Additional file 1: of Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth

Bhavi Modi (5825438)
Hardik Parikh (3489698)
Maria Teves (5825444)
Rewa Kulkarni (5825447)
Jiang Liyu (5825450)
Roberto Romero (19224)
Timothy York (3978086)
Jerome Strauss (5825453)

October 2018

Table S1. Primers used for METTL7B SNP genotyping. Primers used for genotyping rs115687886, rs138407...

Additional file 1: of Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series

Jiadi Wen (6431696)
Kathleen Comerford (6431699)
Zhiyong Xu (3987659)
Weiqing Wu (6431702)
Katherine Amato (3511898)
Brittany Grommisch (6431705)
Autumn DiAdamo (6431708)
Fang Xu (138747)
Hongyan Chai (4889599)
Peining Li (1766932)

March 2019

Table S1. PCR primer for selected SNPs. Table S2. Confirmation of SNP calling by PCR/Sequencing. Tab...

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: Table S1. of Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

Jia-Chi Wang (3422507)
Loretta Mahon (3430139)
Leslie Ross (3430142)
Arturo Anguiano (3430145)
Renius Owen (631387)
Fatih Boyar (3422504)

November 2016

List of the cases with small (<1 Mb) pathogenic copy number loss on chromosome 9 without involvement...

Additional file 2: Figure S1. of Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

Hayk Barseghyan (4535725)
Wilson Tang (4535734)
Richard Wang (84158)
Miguel Almalvez (4535722)
Eva Segura (4535728)
Matthew Bramble (4535716)
Allen Lipson (4535731)
Emilie Douine (4535719)
Hane Lee (253935)
EmmanuĂ¨le DĂŠlot (4535779)
Stanley Nelson (3763426)
Eric Vilain (217253)

October 2017

DMD exons 3â4 duplication validation in the CDMD1163 case. Exons 2 and 5 are present in single cop...

Additional file 2: Table S2. of DNA alterations in Cd133+ and Cd133- tumour cells enriched from intra-operative human colon tumour biopsies

Diana Cervantes-Madrid (3864460)
Yvonne Wettergren (747172)
Peter Falk (3864457)
Kent Lundholm (727971)
Annika Asting (3864463)

March 2017

Shared deletions among CD133+ and CD133â/EpCAM+ cell fractions analyzed with inter-array analysis....

Additional file 6: Figure S6. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Susanne Boonen (3420221)
Andrea Freschi (3420212)
Rikke Christensen (32108)
Federica Valente (3420209)
Dorte Lildballe (3420215)
Lucia Perone (3420218)
Orazio Palumbo (174177)
Massimo Carella (174251)
Niels Uldbjerg (500176)
Angela Sparago (272242)
Andrea Riccio (272246)
Flavia Cerrato (272244)

June 2016

DNA methylation (top) and copy number (CN, bottom) analyses at 11p15 region in family 2, determined ...

Additional file 1: of Genomic evidence of Y chromosome microchimerism in the endometrium during endometriosis and in cases of infertility

Muzaffer Bhat (6332402)
Jai Sharma (2642710)
Kallol Roy (6332405)
Jayasree Sengupta (3476852)
Debabrata Ghosh (2434837)

February 2019

Table S1. List of genes and their primers used for quantitative PCR and qRT-PCR. (DOC 33 kb

Additional file 1: Table S1. of The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Fonseca (3505373)
Adriano Bonaldi (3505367)
Simone Fonseca (287266)
Paulo Otto (3505370)
Fernando Kok (3505364)
Mads Bak (181535)
Niels Tommerup (118532)
Angela Vianna-Morgante (3505376)

December 2015

BAC clones used as probes for chromosome 2 breakpoint mapping in the proband (III-4). (XLSX 12 kb

Additional file 2: Table S2. of Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal abnormalities

Natalia Kovaleva (4038020)
Philip Cotter (4038017)

December 2017

Mosaicism for duplications. Tabular data presenting details of carriers of mosaicism for duplication...

Additional file 2: Table S2. of Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions

Natalia Kovaleva (4038020)
Philip Cotter (4038017)

May 2017

Mosaicism for duplications. Tabular data presenting details of affected carriers of mosaicism for du...

Additional file 2: Table S2. of Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Katalin Komlosi (4801965)
Stefan Diederich (4801959)
Desiree Fend-Guella (4801962)
Oliver Bartsch (342921)
Jennifer Winter (87429)
Ulrich Zechner (212594)
Michael Beck (703654)
Peter Meyer (41793)
Susann Schweiger (87433)

January 2018

Additional variants in the couples. Additional file describing additional possibly pathogenic varian...

Additional file 3: Table S3. of The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Fonseca (3505373)
Adriano Bonaldi (3505367)
Simone Fonseca (287266)
Paulo Otto (3505370)
Fernando Kok (3505364)
Mads Bak (181535)
Niels Tommerup (118532)
Angela Vianna-Morgante (3505376)

December 2015

Primers used in qRT-PCR analysis of duplicated (LMNB1, MARCH3 and FBN2) and reference (ACTB) genes. ...

Additional file 2: Table S2. of The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Fonseca (3505373)
Adriano Bonaldi (3505367)
Simone Fonseca (287266)
Paulo Otto (3505370)
Fernando Kok (3505364)
Mads Bak (181535)
Niels Tommerup (118532)
Angela Vianna-Morgante (3505376)

December 2015

BAC and PAC clones used as probes for chromosome 22 breakpoint mapping in the proband (III-4). (XLSX...

Additional file 1: Table S1. of Biallelic modification of IL2RG leads to severe combined immunodeficiency in pigs

Jung-Taek Kang (3429896)
Bumrae Cho (304017)
Junghyun Ryu (3429890)
Caitlin Ray (3429908)
Eun-Jin Lee (2299186)
Yun-Jin Yun (3429902)
SunMi Ahn (3429899)
JinSeok Lee (3429905)
Dal-Young Ji (3429887)
Nathaniel Jue (3429884)
Sherrie Clark-Deener (550129)
Kiho Lee (1366734)
Kwang-Wook Park (3429893)

November 2016

Oligos used to introduce sgRNA into px330. Each pair of forward and reverse primers were annealing a...

Additional file 1: of Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth

Bhavi Modi (5825438)
Hardik Parikh (3489698)
Maria Teves (5825444)
Rewa Kulkarni (5825447)
Jiang Liyu (5825450)
Roberto Romero (19224)
Timothy York (3978086)
Jerome Strauss (5825453)

October 2018

Table S1. Primers used for METTL7B SNP genotyping. Primers used for genotyping rs115687886, rs138407...

Additional file 1: of Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series

Jiadi Wen (6431696)
Kathleen Comerford (6431699)
Zhiyong Xu (3987659)
Weiqing Wu (6431702)
Katherine Amato (3511898)
Brittany Grommisch (6431705)
Autumn DiAdamo (6431708)
Fang Xu (138747)
Hongyan Chai (4889599)
Peining Li (1766932)

March 2019

Table S1. PCR primer for selected SNPs. Table S2. Confirmation of SNP calling by PCR/Sequencing. Tab...

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: Table S1. of Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

Jia-Chi Wang (3422507)
Loretta Mahon (3430139)
Leslie Ross (3430142)
Arturo Anguiano (3430145)
Renius Owen (631387)
Fatih Boyar (3422504)

November 2016

List of the cases with small (<1 Mb) pathogenic copy number loss on chromosome 9 without involvement...

Additional file 2: Figure S1. of Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

Hayk Barseghyan (4535725)
Wilson Tang (4535734)
Richard Wang (84158)
Miguel Almalvez (4535722)
Eva Segura (4535728)
Matthew Bramble (4535716)
Allen Lipson (4535731)
Emilie Douine (4535719)
Hane Lee (253935)
EmmanuĂ¨le DĂŠlot (4535779)
Stanley Nelson (3763426)
Eric Vilain (217253)

October 2017

DMD exons 3â4 duplication validation in the CDMD1163 case. Exons 2 and 5 are present in single cop...

Additional file 2: Table S2. of DNA alterations in Cd133+ and Cd133- tumour cells enriched from intra-operative human colon tumour biopsies

Diana Cervantes-Madrid (3864460)
Yvonne Wettergren (747172)
Peter Falk (3864457)
Kent Lundholm (727971)
Annika Asting (3864463)

March 2017

Shared deletions among CD133+ and CD133â/EpCAM+ cell fractions analyzed with inter-array analysis....

Additional file 6: Figure S6. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Susanne Boonen (3420221)
Andrea Freschi (3420212)
Rikke Christensen (32108)
Federica Valente (3420209)
Dorte Lildballe (3420215)
Lucia Perone (3420218)
Orazio Palumbo (174177)
Massimo Carella (174251)
Niels Uldbjerg (500176)
Angela Sparago (272242)
Andrea Riccio (272246)
Flavia Cerrato (272244)

June 2016

DNA methylation (top) and copy number (CN, bottom) analyses at 11p15 region in family 2, determined ...

Additional file 1: of Genomic evidence of Y chromosome microchimerism in the endometrium during endometriosis and in cases of infertility

Muzaffer Bhat (6332402)
Jai Sharma (2642710)
Kallol Roy (6332405)
Jayasree Sengupta (3476852)
Debabrata Ghosh (2434837)

February 2019

Table S1. List of genes and their primers used for quantitative PCR and qRT-PCR. (DOC 33 kb

Additional file 2: of Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

Abstract

Extracted data

Additional file 2: of Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

Abstract

Extracted data

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