Additional file 1: of Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height

?????????

May 2012

Height is a highly heritable trait that involves multiple genetic loci. To identify causal variants ...

Supplementary Material for: Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment

Quigley C.A. (4139134)
Li Y.G. (6575615)
Brown M.R. (6575618)
Pillai S.G. (6575621)
Banerjee P. (4106074)
Scott R.S. (6575624)
Blum W.F. (4139146)
Parks J.S. (6575627)

April 2019

Background/Aims: The term idiopathic short stature (ISS) describes short stature of unknown, but lik...

Additional file 1: of Relevance of polymorphisms in MC4R and BDNF in short normal stature

Nikolas Herrfurth (2141509)
Anna-Lena Volckmar (280948)
Triinu Peters (5677598)
Gunnar Kleinau (103422)
Anne MĂźller (5677616)
Cigdem Cetindag (5677601)
Laura Schonnop (5677604)
Manuel FĂścker (5677619)
Astrid Dempfle (73673)
Stefan Wudy (5677607)
Struan Grant (5677610)
Thomas Reinehr (87546)
Diana Cousminer (5677613)
Johannes Hebebrand (170268)
Heike Biebermann (46078)
Anke Hinney (87545)

August 2018

Table S1. Primers, PCR conditions, fragment sizes and screening methods for LEP, MC4R, MRAP2 and BDN...

Additional file 2: of Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

Dandan Xu (149923)
Chengjun Sun (1901482)
Zeyi Zhou (5229434)
Bingbing Wu (3608228)
Lin Yang (45852)
Zhuo Chang (3601886)
Miaoying Zhang (5229440)
Li Xi (224608)
Ruoqian Cheng (5229437)
Jinwen Ni (5229443)
Feihong Luo (612837)

May 2018

Figure S2. Black arrow: Cervical-vertebral cleft in the spine. White arrows: Apophyses in the upper ...

Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

Dandan Xu
Chengjun Sun
Zeyi Zhou
Bingbing Wu
Lin Yang
Zhuo Chang
Miaoying Zhang
Li Xi
Ruoqian Cheng
Jinwen Ni
Feihong Luo

May 2018

Abstract Background Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneou...

Additional file 3: of A semi-dominant mutation in a CC-NB-LRR-type protein leads to a short-root phenotype in rice

Zhiming Yu (395119)
Lixiang Dong (4904425)
Zhifang Jiang (4904431)
Keke Yi (477808)
Jianhua Zhang (6347)
Zhongchen Zhang (470542)
Zhenxing Zhu (509266)
Yuhuan Wu (3815479)
Maojun Xu (447937)
Jun Ni (68173)

October 2018

Figure S1. Protein sequence of NRTP1. Domains are marked by different colors. A substitution from As...

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 A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family

Ningjin Wu (6492731)
Husile Husile (6492734)
Liqing Yang (6492737)
Yaning Cao (6492740)
Xing Li (134367)
Wenyan Huo (6492743)
Haihua Bai (1675420)
Yangjian Liu (6492746)
Qizhu Wu (126969)

March 2019

Table S1. The genome-wide analysis list. Table S2. Average coverage. Table S3. 127 genes panel of he...

Additional file 2: Figure S1 of Genetic determinants of growth hormone and GH-related phenotypes

Erik Hallengren (757197)
Peter Almgren (11999)
Malin Svensson (364)
Widet Gallo (4533472)
Gunnar Engström (94379)
Margaretha Persson (180824)
Olle Melander (25955)

October 2017

Quantile–quantile plot of the genome-wide association analysis for fasting levels of hs-GH in MDC-CC...

Additional file 1: Figure S1. of The RAB39B p.G192R mutation causes X-linked dominant Parkinsonâs disease

Ignacio Mata (3582854)
Yongwoo Jang (3582866)
Chun-Hyung Kim (251224)
David Hanna (1986160)
Michael Dorschner (3582893)
Ali Samii (208996)
Pinky Agarwal (43315)
John Roberts (403522)
Olga Klepitskaya (3582869)
David Shprecher (3582884)
Kathryn Chung (3582896)
Stewart Factor (3582863)
Alberto Espay (3398120)
Fredy Revilla (3582851)
Donald Higgins (3582857)
Irene Litvan (2839049)
James Leverenz (3582890)
Dora Yearout (208993)
Miguel Inca-Martinez (3582878)
Erica Martinez (3582860)
Tiffany Thompson (3582872)
Brenna Cholerton (3582887)
Shu-Ching Hu (3582881)
Karen Edwards (3582899)
Kwang-Soo Kim (251254)
Cyrus Zabetian (3582875)

September 2015

Pedigrees with variants of unknown significance. Pedigrees in which the RAB39B (A) c.428C>G (p.A143G...

Additional file 2: of Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Guja Astrea (3448490)
Alessandro Romano (430123)
Corrado Angelini (410901)
Carlo Antozzi (109781)
Rita Barresi (251871)
Roberta Battini (289280)
Carla Battisti (5795105)
Enrico Bertini (156405)
Claudio Bruno (289284)
Denise Cassandrini (3448484)
Marina Fanin (410896)
Fabiana Fattori (5795108)
Chiara Fiorillo (5795111)
Renzo Guerrini (213811)
Lorenzo Maggi (5577830)
Eugenio Mercuri (289290)
Federica Morani (5795114)
Marina Mora (2795200)
Francesca Moro (5795117)
Ilaria Pezzini (5795120)
Esther Picillo (5795123)
Michele Pinelli (197528)
Luisa Politano (289286)
Anna Rubegni (3448496)
Walter Sanseverino (3498791)
Marco Savarese (108997)
Pasquale Striano (4479343)
Annalaura Torella (109007)
Carlo Pietro Trevisan (5795126)
Rosanna Trovato (3448493)
Irina Zaraieva (5795129)
Francesco Muntoni (228210)
Vincenzo Nigro (109019)
Adele DâAmico (5795141)
Filippo Santorelli (3448487)

September 2018

Figure S2. Pedigree of the family showing pseudo-dominant inheritance in GMPPB disease. Two patients...

Additional file 4: of A semi-dominant mutation in a CC-NB-LRR-type protein leads to a short-root phenotype in rice

Zhiming Yu (395119)
Lixiang Dong (4904425)
Zhifang Jiang (4904431)
Keke Yi (477808)
Jianhua Zhang (6347)
Zhongchen Zhang (470542)
Zhenxing Zhu (509266)
Yuhuan Wu (3815479)
Maojun Xu (447937)
Jun Ni (68173)

October 2018

Figure S2. Amino acid alignment of NRTP1 with other CC-NB-LRR proteins identified in rice. Substitut...

Additional file 1: of Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

F. Elli (6182129)
L. deSanctis (6182132)
M.A. Maffini (6182135)
P. Bordogna (6182138)
D. Tessaris (6182141)
A. Pirelli (6182144)
M. Arosio (6182147)
A. Linglart (6182150)
G. Mantovani (6182153)

January 2019

Table S1. Clinical characteristics and molecular analysis of patients included in the present study....

Additional file 2: of A semi-dominant mutation in a CC-NB-LRR-type protein leads to a short-root phenotype in rice

Zhiming Yu (395119)
Lixiang Dong (4904425)
Zhifang Jiang (4904431)
Keke Yi (477808)
Jianhua Zhang (6347)
Zhongchen Zhang (470542)
Zhenxing Zhu (509266)
Yuhuan Wu (3815479)
Maojun Xu (447937)
Jun Ni (68173)

October 2018

Table S2. Summary of sequencing data for each sample. Valid data were obtained after removing adapto...

Additional file 1: Table S1. of Association of common variants identified by recent genome-wide association studies with obesity in Chinese children: a case-control study

Hai-Jun Wang (105204)
Anke Hinney (87545)
Jie-Yun Song (2210815)
AndrĂŠ Scherag (3548405)
Xiang-Rui Meng (3548402)
Harald Grallert (72666)
Thomas Illig (44906)
Johannes Hebebrand (170268)
Yan Wang (15435)
Jun Ma (9393)

January 2016

Basic genotyping information of 40 GWAÂ studies-derived SNPs in Chinese children. (XLSX 16 kb

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height

?????????

May 2012

Height is a highly heritable trait that involves multiple genetic loci. To identify causal variants ...

Supplementary Material for: Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment

Quigley C.A. (4139134)
Li Y.G. (6575615)
Brown M.R. (6575618)
Pillai S.G. (6575621)
Banerjee P. (4106074)
Scott R.S. (6575624)
Blum W.F. (4139146)
Parks J.S. (6575627)

April 2019

Background/Aims: The term idiopathic short stature (ISS) describes short stature of unknown, but lik...

Additional file 1: of Relevance of polymorphisms in MC4R and BDNF in short normal stature

Nikolas Herrfurth (2141509)
Anna-Lena Volckmar (280948)
Triinu Peters (5677598)
Gunnar Kleinau (103422)
Anne MĂźller (5677616)
Cigdem Cetindag (5677601)
Laura Schonnop (5677604)
Manuel FĂścker (5677619)
Astrid Dempfle (73673)
Stefan Wudy (5677607)
Struan Grant (5677610)
Thomas Reinehr (87546)
Diana Cousminer (5677613)
Johannes Hebebrand (170268)
Heike Biebermann (46078)
Anke Hinney (87545)

August 2018

Table S1. Primers, PCR conditions, fragment sizes and screening methods for LEP, MC4R, MRAP2 and BDN...

Additional file 2: of Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

Dandan Xu (149923)
Chengjun Sun (1901482)
Zeyi Zhou (5229434)
Bingbing Wu (3608228)
Lin Yang (45852)
Zhuo Chang (3601886)
Miaoying Zhang (5229440)
Li Xi (224608)
Ruoqian Cheng (5229437)
Jinwen Ni (5229443)
Feihong Luo (612837)

May 2018

Figure S2. Black arrow: Cervical-vertebral cleft in the spine. White arrows: Apophyses in the upper ...

Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

Dandan Xu
Chengjun Sun
Zeyi Zhou
Bingbing Wu
Lin Yang
Zhuo Chang
Miaoying Zhang
Li Xi
Ruoqian Cheng
Jinwen Ni
Feihong Luo

May 2018

Abstract Background Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneou...

Additional file 3: of A semi-dominant mutation in a CC-NB-LRR-type protein leads to a short-root phenotype in rice

Zhiming Yu (395119)
Lixiang Dong (4904425)
Zhifang Jiang (4904431)
Keke Yi (477808)
Jianhua Zhang (6347)
Zhongchen Zhang (470542)
Zhenxing Zhu (509266)
Yuhuan Wu (3815479)
Maojun Xu (447937)
Jun Ni (68173)

October 2018

Figure S1. Protein sequence of NRTP1. Domains are marked by different colors. A substitution from As...

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 A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family

Ningjin Wu (6492731)
Husile Husile (6492734)
Liqing Yang (6492737)
Yaning Cao (6492740)
Xing Li (134367)
Wenyan Huo (6492743)
Haihua Bai (1675420)
Yangjian Liu (6492746)
Qizhu Wu (126969)

March 2019

Table S1. The genome-wide analysis list. Table S2. Average coverage. Table S3. 127 genes panel of he...

Additional file 2: Figure S1 of Genetic determinants of growth hormone and GH-related phenotypes

Erik Hallengren (757197)
Peter Almgren (11999)
Malin Svensson (364)
Widet Gallo (4533472)
Gunnar Engström (94379)
Margaretha Persson (180824)
Olle Melander (25955)

October 2017

Quantile–quantile plot of the genome-wide association analysis for fasting levels of hs-GH in MDC-CC...

Additional file 1: Figure S1. of The RAB39B p.G192R mutation causes X-linked dominant Parkinsonâs disease

Ignacio Mata (3582854)
Yongwoo Jang (3582866)
Chun-Hyung Kim (251224)
David Hanna (1986160)
Michael Dorschner (3582893)
Ali Samii (208996)
Pinky Agarwal (43315)
John Roberts (403522)
Olga Klepitskaya (3582869)
David Shprecher (3582884)
Kathryn Chung (3582896)
Stewart Factor (3582863)
Alberto Espay (3398120)
Fredy Revilla (3582851)
Donald Higgins (3582857)
Irene Litvan (2839049)
James Leverenz (3582890)
Dora Yearout (208993)
Miguel Inca-Martinez (3582878)
Erica Martinez (3582860)
Tiffany Thompson (3582872)
Brenna Cholerton (3582887)
Shu-Ching Hu (3582881)
Karen Edwards (3582899)
Kwang-Soo Kim (251254)
Cyrus Zabetian (3582875)

September 2015

Pedigrees with variants of unknown significance. Pedigrees in which the RAB39B (A) c.428C>G (p.A143G...

Additional file 2: of Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Guja Astrea (3448490)
Alessandro Romano (430123)
Corrado Angelini (410901)
Carlo Antozzi (109781)
Rita Barresi (251871)
Roberta Battini (289280)
Carla Battisti (5795105)
Enrico Bertini (156405)
Claudio Bruno (289284)
Denise Cassandrini (3448484)
Marina Fanin (410896)
Fabiana Fattori (5795108)
Chiara Fiorillo (5795111)
Renzo Guerrini (213811)
Lorenzo Maggi (5577830)
Eugenio Mercuri (289290)
Federica Morani (5795114)
Marina Mora (2795200)
Francesca Moro (5795117)
Ilaria Pezzini (5795120)
Esther Picillo (5795123)
Michele Pinelli (197528)
Luisa Politano (289286)
Anna Rubegni (3448496)
Walter Sanseverino (3498791)
Marco Savarese (108997)
Pasquale Striano (4479343)
Annalaura Torella (109007)
Carlo Pietro Trevisan (5795126)
Rosanna Trovato (3448493)
Irina Zaraieva (5795129)
Francesco Muntoni (228210)
Vincenzo Nigro (109019)
Adele DâAmico (5795141)
Filippo Santorelli (3448487)

September 2018

Figure S2. Pedigree of the family showing pseudo-dominant inheritance in GMPPB disease. Two patients...

Additional file 4: of A semi-dominant mutation in a CC-NB-LRR-type protein leads to a short-root phenotype in rice

Zhiming Yu (395119)
Lixiang Dong (4904425)
Zhifang Jiang (4904431)
Keke Yi (477808)
Jianhua Zhang (6347)
Zhongchen Zhang (470542)
Zhenxing Zhu (509266)
Yuhuan Wu (3815479)
Maojun Xu (447937)
Jun Ni (68173)

October 2018

Figure S2. Amino acid alignment of NRTP1 with other CC-NB-LRR proteins identified in rice. Substitut...

Additional file 1: of Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

F. Elli (6182129)
L. deSanctis (6182132)
M.A. Maffini (6182135)
P. Bordogna (6182138)
D. Tessaris (6182141)
A. Pirelli (6182144)
M. Arosio (6182147)
A. Linglart (6182150)
G. Mantovani (6182153)

January 2019

Table S1. Clinical characteristics and molecular analysis of patients included in the present study....

Additional file 2: of A semi-dominant mutation in a CC-NB-LRR-type protein leads to a short-root phenotype in rice

Zhiming Yu (395119)
Lixiang Dong (4904425)
Zhifang Jiang (4904431)
Keke Yi (477808)
Jianhua Zhang (6347)
Zhongchen Zhang (470542)
Zhenxing Zhu (509266)
Yuhuan Wu (3815479)
Maojun Xu (447937)
Jun Ni (68173)

October 2018

Table S2. Summary of sequencing data for each sample. Valid data were obtained after removing adapto...

Additional file 1: Table S1. of Association of common variants identified by recent genome-wide association studies with obesity in Chinese children: a case-control study

Hai-Jun Wang (105204)
Anke Hinney (87545)
Jie-Yun Song (2210815)
AndrĂŠ Scherag (3548405)
Xiang-Rui Meng (3548402)
Harald Grallert (72666)
Thomas Illig (44906)
Johannes Hebebrand (170268)
Yan Wang (15435)
Jun Ma (9393)

January 2016

Basic genotyping information of 40 GWAÂ studies-derived SNPs in Chinese children. (XLSX 16 kb

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height

?????????

May 2012

Height is a highly heritable trait that involves multiple genetic loci. To identify causal variants ...

Supplementary Material for: Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment

Quigley C.A. (4139134)
Li Y.G. (6575615)
Brown M.R. (6575618)
Pillai S.G. (6575621)
Banerjee P. (4106074)
Scott R.S. (6575624)
Blum W.F. (4139146)
Parks J.S. (6575627)

April 2019

Background/Aims: The term idiopathic short stature (ISS) describes short stature of unknown, but lik...

Additional file 1: of Relevance of polymorphisms in MC4R and BDNF in short normal stature

Nikolas Herrfurth (2141509)
Anna-Lena Volckmar (280948)
Triinu Peters (5677598)
Gunnar Kleinau (103422)
Anne MĂźller (5677616)
Cigdem Cetindag (5677601)
Laura Schonnop (5677604)
Manuel FĂścker (5677619)
Astrid Dempfle (73673)
Stefan Wudy (5677607)
Struan Grant (5677610)
Thomas Reinehr (87546)
Diana Cousminer (5677613)
Johannes Hebebrand (170268)
Heike Biebermann (46078)
Anke Hinney (87545)

August 2018

Table S1. Primers, PCR conditions, fragment sizes and screening methods for LEP, MC4R, MRAP2 and BDN...

Additional file 1: of Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

Abstract

Extracted data

Additional file 1: of Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

Abstract

Extracted data

Related items

Related items