Pedigree of a consanguineous Pakistani family segregating an autosomal recessive form of a novel type of ectodermal dysplasia. | ORKG Ask

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Pedigrees of seven Chinese adRP families and co-segregation analysis in available family members.

Liping Yang (156318)
Hui Cui (285760)
Xiaobei Yin (509269)
Hongliang Dou (817568)
Lin Zhao (92451)
Ningning Chen (509273)
Jinlu Zhang (817569)
Huirong Zhang (817570)
Genlin Li (509274)
Zhizhong Ma (316760)

October 2015

<p>Filled symbols represent affected, unfilled unaffected. Question marks indicate that it is not cl...

Segregation of selected variants.

Sarah Moreau-Le Lan (6053573)
Elena Aller (381744)
Ines Calabria (493731)
Lola Gonzalez-Tarancon (6053576)
Cristina Cardona-Gay (6053579)
Marina Martinez-Matilla (6053582)
Maria J. Aparisi (6053585)
Jorge Selles (6053588)
Lydia Sagath (6053591)
Inmaculada Pitarch (6053594)
Nuria Muelas (6053597)
Jose V. Cervera (6053600)
Jose M. Millan (2507044)
Laia Pedrola (180926)

December 2018

Pedigree symbols. Circle: female; square: male; filled: affected; unfilled: unaffected; spot: carrie...

Pedigrees of six cuticular drusen (CD) families in which whole exome sequencing (WES) was performed.

Maheswara R. Duvvari (552352)
Johannes P. H. van de Ven (552356)
Maartje J. Geerlings (2578048)
Nicole T. M. Saksens (552354)
Bjorn Bakker (2578045)
Arjen Henkes (734279)
Kornelia Neveling (139796)
Marisol del Rosario (2578054)
Dineke Westra (2578057)
Lambertus P. W. J. van den Heuvel (552358)
Tina Schick (627467)
Sascha Fauser (144944)
Camiel J. F. Boon (2578051)
Carel B. Hoyng (552359)
Eiko K. de Jong (233708)
Anneke I. den Hollander (142854)

March 2016

<p>Circle and square symbols indicate female and male individuals, respectively. Symbols with slashe...

Pedigree of family 1304.

Yali Zhao (132205)
Dayong Wang (139014)
Liang Zong (439710)
Feifan Zhao (439709)
Liping Guan (420348)
Peng Zhang (2071)
Wei Shi (68167)
Lan Lan (104497)
Hongyang Wang (18388)
Qian Li (114642)
Bing Han (38992)
Ling Yang (34478)
Xin Jin (108988)
Jian Wang (5901)
Jun Wang (5906)
Qiuju Wang (7400)

May 2014

<p>Filled symbols for males (squares) and females (circles) represent affected individuals, and empt...

Family pedigree.

Weirong Chen (406541)
Xiaoyun Chen (222968)
Zhengmao Hu (490757)
Haotian Lin (82598)
Fengqi Zhou (490758)
Lixia Luo (406540)
Xinyu Zhang (14029)
Xiaojian Zhong (438718)
Ye Yang (297214)
Changrui Wu (490759)
Zhuoling Lin (406545)
Shaobi Ye (490760)
Yizhi Liu (90863)

November 2013

<p>The family history reveals 22 affected members in 4 generations. The dark symbols represent the a...

Pedigree of Family A.

Francesco Pallotti (207414)
Giorgio Binelli (560679)
Raffaella Fabbri (560680)
Maria L. Valentino (24596)
Rossella Vicenti (560681)
Maria Macciocca (560682)
Sabina Cevoli (560683)
Agostino Baruzzi (277710)
Salvatore DiMauro (362928)
Valerio Carelli (24588)

May 2014

<p>Filled symbol indicates the proband (II-2). Shaded symbols indicate asymptomatic individuals carr...

Partial pedigrees of the nine MODY families investigated.

Stefan Johansson (161866)
Henrik Irgens (161870)
Kishan K. Chudasama (161875)
Janne Molnes (161877)
Jan Aerts (38044)
Francisco S. Roque (161885)
Inge Jonassen (682)
Shawn Levy (41620)
Kari Lima (161891)
Per M. Knappskog (161895)
Graeme I. Bell (161899)
Anders Molven (158244)
Pål R. Njølstad (161909)

May 2012

<p>Squares represent male family members, circles female, and diamonds sex unknown. Numbers inside d...

Pedigrees of the 13 families included in the study.

Diana L. Cousminer (747917)
Jaakko T. Leinonen (120321)
Antti-Pekka Sarin (177209)
Himanshu Chheda (747918)
Ida Surakka (120325)
Karoliina Wehkalampi (331275)
Pekka Ellonen (62538)
Samuli Ripatti (144251)
Leo Dunkel (747919)
Aarno Palotie (41342)
Elisabeth Widén (3212700)

June 2015

<p>Circles represent females and squares are males. Filled circles are classified as affected with C...

Pedigree of F013.

Yali Zhao (132205)
Feifan Zhao (439709)
Liang Zong (439710)
Peng Zhang (2071)
Liping Guan (420348)
Jianguo Zhang (6482)
Dayong Wang (139014)
Jing Wang (4865)
Wei Chai (403946)
Lan Lan (104497)
Qian Li (114642)
Bing Han (38992)
Ling Yang (34478)
Xin Jin (108988)
Weiyan Yang (439711)
Xiaoxiang Hu (118803)
Xiaoning Wang (16150)
Ning Li (45258)
Yingrui Li (149030)
Christine Petit (274552)
Jun Wang (5906)
Huanming Yang Jian Wang (439712)
Qiuju Wang (7400)

July 2013

<p>Filled symbols for males (squares) and females (circles) represent affected individuals, and empt...

Pedigree diagram of family DP.

Jakub Piotr Fichna (679151)
Justyna Karolczak (679152)
Anna Potulska-Chromik (679153)
Przemyslaw Miszta (679154)
Mariusz Berdynski (463855)
Agata Sikorska (679155)
Slawomir Filipek (117514)
Maria Jolanta Redowicz (679156)
Anna Kaminska (384918)
Cezary Zekanowski (4982891)

December 2014

<p>The proband is marked with an arrow. Black symbols indicate clinically affected family members, o...

Family pedigrees of patients that were studied.

Christopher M. Watson (199531)
Mohammed El-Asrag (617140)
David A. Parry (617141)
Joanne E. Morgan (617142)
Clare V. Logan (617143)
Ian M. Carr (141801)
Eamonn Sheridan (617144)
Ruth Charlton (617145)
Colin A. Johnson (221499)
Graham Taylor (241206)
Carmel Toomes (617146)
Martin McKibbin (141807)
Chris F. Inglehearn (617147)
Manir Ali (141816)

August 2014

<p>Individuals from whom DNA was available are assigned the DNA notation in small lettering to the t...

Pedigrees of seven Chinese adRP families and co-segregation analysis in available family members.

Liping Yang (156318)
Hui Cui (285760)
Xiaobei Yin (509269)
Hongliang Dou (817568)
Lin Zhao (92451)
Ningning Chen (509273)
Jinlu Zhang (817569)
Huirong Zhang (817570)
Genlin Li (509274)
Zhizhong Ma (316760)

October 2015

<p>Filled symbols represent affected, unfilled unaffected. Question marks indicate that it is not cl...

Segregation of selected variants.

Sarah Moreau-Le Lan (6053573)
Elena Aller (381744)
Ines Calabria (493731)
Lola Gonzalez-Tarancon (6053576)
Cristina Cardona-Gay (6053579)
Marina Martinez-Matilla (6053582)
Maria J. Aparisi (6053585)
Jorge Selles (6053588)
Lydia Sagath (6053591)
Inmaculada Pitarch (6053594)
Nuria Muelas (6053597)
Jose V. Cervera (6053600)
Jose M. Millan (2507044)
Laia Pedrola (180926)

December 2018

Pedigree symbols. Circle: female; square: male; filled: affected; unfilled: unaffected; spot: carrie...

Pedigrees of six cuticular drusen (CD) families in which whole exome sequencing (WES) was performed.

Maheswara R. Duvvari (552352)
Johannes P. H. van de Ven (552356)
Maartje J. Geerlings (2578048)
Nicole T. M. Saksens (552354)
Bjorn Bakker (2578045)
Arjen Henkes (734279)
Kornelia Neveling (139796)
Marisol del Rosario (2578054)
Dineke Westra (2578057)
Lambertus P. W. J. van den Heuvel (552358)
Tina Schick (627467)
Sascha Fauser (144944)
Camiel J. F. Boon (2578051)
Carel B. Hoyng (552359)
Eiko K. de Jong (233708)
Anneke I. den Hollander (142854)

March 2016

<p>Circle and square symbols indicate female and male individuals, respectively. Symbols with slashe...

Pedigree of family 1304.

Yali Zhao (132205)
Dayong Wang (139014)
Liang Zong (439710)
Feifan Zhao (439709)
Liping Guan (420348)
Peng Zhang (2071)
Wei Shi (68167)
Lan Lan (104497)
Hongyang Wang (18388)
Qian Li (114642)
Bing Han (38992)
Ling Yang (34478)
Xin Jin (108988)
Jian Wang (5901)
Jun Wang (5906)
Qiuju Wang (7400)

May 2014

<p>Filled symbols for males (squares) and females (circles) represent affected individuals, and empt...

Partial pedigrees of the nine MODY families investigated.

Stefan Johansson (161866)
Henrik Irgens (161870)
Kishan K. Chudasama (161875)
Janne Molnes (161877)
Jan Aerts (38044)
Francisco S. Roque (161885)
Inge Jonassen (682)
Shawn Levy (41620)
Kari Lima (161891)
Per M. Knappskog (161895)
Graeme I. Bell (161899)
Anders Molven (158244)
Pål R. Njølstad (161909)

May 2012

<p>Squares represent male family members, circles female, and diamonds sex unknown. Numbers inside d...

Pedigrees of the 13 families included in the study.

Diana L. Cousminer (747917)
Jaakko T. Leinonen (120321)
Antti-Pekka Sarin (177209)
Himanshu Chheda (747918)
Ida Surakka (120325)
Karoliina Wehkalampi (331275)
Pekka Ellonen (62538)
Samuli Ripatti (144251)
Leo Dunkel (747919)
Aarno Palotie (41342)
Elisabeth Widén (3212700)

June 2015

<p>Circles represent females and squares are males. Filled circles are classified as affected with C...

Pedigree of F013.

Yali Zhao (132205)
Feifan Zhao (439709)
Liang Zong (439710)
Peng Zhang (2071)
Liping Guan (420348)
Jianguo Zhang (6482)
Dayong Wang (139014)
Jing Wang (4865)
Wei Chai (403946)
Lan Lan (104497)
Qian Li (114642)
Bing Han (38992)
Ling Yang (34478)
Xin Jin (108988)
Weiyan Yang (439711)
Xiaoxiang Hu (118803)
Xiaoning Wang (16150)
Ning Li (45258)
Yingrui Li (149030)
Christine Petit (274552)
Jun Wang (5906)
Huanming Yang Jian Wang (439712)
Qiuju Wang (7400)

July 2013

<p>Filled symbols for males (squares) and females (circles) represent affected individuals, and empt...

Pedigree diagram of family DP.

Jakub Piotr Fichna (679151)
Justyna Karolczak (679152)
Anna Potulska-Chromik (679153)
Przemyslaw Miszta (679154)
Mariusz Berdynski (463855)
Agata Sikorska (679155)
Slawomir Filipek (117514)
Maria Jolanta Redowicz (679156)
Anna Kaminska (384918)
Cezary Zekanowski (4982891)

December 2014

<p>The proband is marked with an arrow. Black symbols indicate clinically affected family members, o...

Family pedigrees of patients that were studied.

Christopher M. Watson (199531)
Mohammed El-Asrag (617140)
David A. Parry (617141)
Joanne E. Morgan (617142)
Clare V. Logan (617143)
Ian M. Carr (141801)
Eamonn Sheridan (617144)
Ruth Charlton (617145)
Colin A. Johnson (221499)
Graham Taylor (241206)
Carmel Toomes (617146)
Martin McKibbin (141807)
Chris F. Inglehearn (617147)
Manir Ali (141816)

August 2014

<p>Individuals from whom DNA was available are assigned the DNA notation in small lettering to the t...

Pedigrees of seven Chinese adRP families and co-segregation analysis in available family members.

Liping Yang (156318)
Hui Cui (285760)
Xiaobei Yin (509269)
Hongliang Dou (817568)
Lin Zhao (92451)
Ningning Chen (509273)
Jinlu Zhang (817569)
Huirong Zhang (817570)
Genlin Li (509274)
Zhizhong Ma (316760)

October 2015

<p>Filled symbols represent affected, unfilled unaffected. Question marks indicate that it is not cl...

Segregation of selected variants.

Sarah Moreau-Le Lan (6053573)
Elena Aller (381744)
Ines Calabria (493731)
Lola Gonzalez-Tarancon (6053576)
Cristina Cardona-Gay (6053579)
Marina Martinez-Matilla (6053582)
Maria J. Aparisi (6053585)
Jorge Selles (6053588)
Lydia Sagath (6053591)
Inmaculada Pitarch (6053594)
Nuria Muelas (6053597)
Jose V. Cervera (6053600)
Jose M. Millan (2507044)
Laia Pedrola (180926)

December 2018

Pedigree symbols. Circle: female; square: male; filled: affected; unfilled: unaffected; spot: carrie...

Pedigrees of six cuticular drusen (CD) families in which whole exome sequencing (WES) was performed.

Maheswara R. Duvvari (552352)
Johannes P. H. van de Ven (552356)
Maartje J. Geerlings (2578048)
Nicole T. M. Saksens (552354)
Bjorn Bakker (2578045)
Arjen Henkes (734279)
Kornelia Neveling (139796)
Marisol del Rosario (2578054)
Dineke Westra (2578057)
Lambertus P. W. J. van den Heuvel (552358)
Tina Schick (627467)
Sascha Fauser (144944)
Camiel J. F. Boon (2578051)
Carel B. Hoyng (552359)
Eiko K. de Jong (233708)
Anneke I. den Hollander (142854)

March 2016

<p>Circle and square symbols indicate female and male individuals, respectively. Symbols with slashe...