PMC Links for Books (Select 1946926) - PMC

Select item 104093951.

一个血小板减少伴桡骨缺失综合征家系的遗传学研究及产前诊断

丽丁, 颖之黄, 叶青钱, 旻岳董

Sichuan Da Xue Xue Bao Yi Xue Ban. 2021 Jul 20; 52(4): 711–715. Chinese. doi: 10.12182/20210760508

PMCID:: PMC10409395

Article PDF–2.3M

Select item 90018742.

Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report

Rebecca Farlett, Aarti Kulkarni, Bettina Thomas, Janardhan Mydam

Cureus. 2022 Apr; 14(4): e23991. Published online 2022 Apr 9. doi: 10.7759/cureus.23991

PMCID:: PMC9001874

Article PDF–632K

Select item 69131553.

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes

Seth A. Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, Jieqiong Dai, Mia Steinberg, Joshua P. Waterfall, David Roberson, Bari J. Ballew, Weiyin Zhou, Sarah L. Anzick, Yuan Jiang, Yonghong Wang, Yuelin J. Zhu, Paul S. Meltzer, Joseph Boland, Blanche P. Alter, Sharon A. Savage

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004564. doi: 10.1101/mcs.a004564

Correction in:: Cold Spring Harb Mol Case Stud. 2020 Feb; 6(1): a005116.

PMCID:: PMC6913155

Article PDF–3.3M

Select item 65833234.

Reconstruction of Limb Deformities in Patients with Thrombocytopenia‐absent Radius Syndrome

Ali Al Kaissi, Werner Girsch, Vladimir Kenis, Eugeniy Melchenko, Maher Ben Ghachem, Renata Pospischill, Klaus Klaushofer, Franz Grill, Rudolf Ganger

Orthop Surg. 2015 Feb; 7(1): 50–56. Published online 2015 Feb 23. doi: 10.1111/os.12157

PMCID:: PMC6583323

Article PDF–539K

Select item 64289435.

The RNA Processing Factor Y14 Participates in DNA Damage Response and Repair

Tzu-Wei Chuang, Chia-Chen Lu, Chun-Hao Su, Pei-Yu Wu, Sarasvathi Easwvaran, Chi-Chieh Lee, Hung-Che Kuo, Kuan-Yang Hung, Kuo-Ming Lee, Ching-Yen Tsai, Woan-Yuh Tarn

iScience. 2019 Mar 29; 13: 402–415. Published online 2019 Mar 9. doi: 10.1016/j.isci.2019.03.005

PMCID:: PMC6428943

Article PDF–7.0M

Select item 46355776.

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case

Elisa Tassano, Stefania Gimelli, Maria Teresa Divizia, Margherita Lerone, Carlotta Vaccari, Aldamaria Puliti, Giorgio Gimelli

Mol Cytogenet. 2015; 8: 87. Published online 2015 Nov 5. doi: 10.1186/s13039-015-0188-6

PMCID:: PMC4635577

Article PDF–1.2M

Select item 43818857.

Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association

Chetan Kumar, Deepak Sharma, Aakash Pandita, Sanjay Bhalerao

Int Med Case Rep J. 2015; 8: 81–85. Published online 2015 Mar 27. doi: 10.2147/IMCRJ.S81770

PMCID:: PMC4381885

Article PDF–1.0M

Select item 38490618.

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

Irene Bottillo, Marco Castori, Carmelilia De Bernardo, Romano Fabbri, Barbara Grammatico, Nicoletta Preziosi, Giovanna Sforzolini Scassellati, Evelina Silvestri, Antonella Spagnuolo, Luigi Laino, Paola Grammatico

BMC Res Notes. 2013; 6: 376. Published online 2013 Sep 22. doi: 10.1186/1756-0500-6-376

PMCID:: PMC3849061

Article PDF–1.4M

Select item 34289159.

Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone, Martijn H Breuning, Najet Debili, Panos Deloukas, Rémi Favier, Janine Fiedler, Catherine M Hobbs, Ni Huang, Matthew E Hurles, Graham Kiddle, Ingrid Krapels, Paquita Nurden, Claudia A L Ruivenkamp, Jennifer G Sambrook, Kenneth Smith, Derek L Stemple, Gabriele Strauss, Chantal Thys, Christel van Geet, Ruth Newbury-Ecob, Willem H Ouwehand, Cedric Ghevaert

Nat Genet. Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: Nat Genet. 2012 Feb 26; 44(4): 435–S2. Published online 2012 Feb 26. doi: 10.1038/ng.1083

PMCID:: PMC3428915

Article PDF–1.1M

Select item 324893310.

Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome

Janine Fiedler, Gabriele Strauß, Martin Wannack, Silke Schwiebert, Kerstin Seidel, Katja Henning, Eva Klopocki, Markus Schmugge, Gerhard Gaedicke, Harald Schulze

Haematologica. 2012 Jan; 97(1): 73–81. doi: 10.3324/haematol.2011.049619

PMCID:: PMC3248933

Article PDF–749K

Select item 270374211.

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K. Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koen Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frederique Bena, Raoul C. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton-Smith, Ingrid Simonic, Soo Mi Park, Sarju G. Mehta, Serena Nik-Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, Santina Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John L. Tolmie, Edward S. Tobias, Chris Lilley, Lluis Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel R. Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary-Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris R. Vermeesch, John C.K. Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler

N Engl J Med. Author manuscript; available in PMC 2009 Jun 30.

Published in final edited form as: N Engl J Med. 2008 Oct 16; 359(16): 1685–1699. Published online 2008 Sep 10. doi: 10.1056/NEJMoa0805384

PMCID:: PMC2703742

Article PDF–1.0M

Select item 268012812.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L Kang, Amber Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine Weaver, Elizabeth R Roeder, Theresa A Grebe, Georgianne L Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W Innis, Ewa Obersztyn, Beata Nowakowska, Sally S Rosengren, Patricia I Bader, Dorothy K Grange, Sayed Naqvi, Adolfo D Garnica, Saunder M Bernes, Chin-To Fong, Anne Summers, W David Walters, James R Lupski, Pawel Stankiewicz, Sau Wai Cheung, Ankita Patel

Nat Genet. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: Nat Genet. 2008 Dec; 40(12): 1466–1471. doi: 10.1038/ng.279

PMCID:: PMC2680128

Article PDF–860K

Select item 178534213.

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Eva Klopocki, Harald Schulze, Gabriele Strauß, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A. Newbury-Ecob, Luitgard M. Neumann, Rolf Habenicht, Rainer König, Eva Seemanova, André Megarbane, Hans-Hilger Ropers, Reinhard Ullmann, Denise Horn, Stefan Mundlos

Am J Hum Genet. 2007 Feb; 80(2): 232–240. Published online 2006 Dec 21. doi: 10.1086/510919

PMCID:: PMC1785342

Article PDF–1.2M

Select item 175722114.

Thrombocytopenia-absent radius syndrome: a clinical genetic study

K Greenhalgh, R Howell, A Bottani, P Ancliff, H Brunner, C Verschuuren-Bemel..., E Vernon, K Brown, R Newbury-Ecob

J Med Genet. 2002 Dec; 39(12): 876–881. doi: 10.1136/jmg.39.12.876

PMCID:: PMC1757221

Summary PDF–168K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 14

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity