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Items: 9

1.
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
AbstractArticlePDF–3.3M
2.
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
AbstractArticlePDF–1.2M
3.
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
SummaryPDF–168K
4.
Wilms' tumour and a de novo (1;7) translocation in a child with bilateral radial aplasia
M Hewitt, P W Lunt, A Oakhill
J Med Genet. 1991 Jun; 28(6): 411–412. doi: 10.1136/jmg.28.6.411
PMCID:
PMC1016908
SummaryPage BrowsePDF–221K
5.
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations
Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza
Front Pediatr. 2019; 7: 210. Published online 2019 May 28. doi: 10.3389/fped.2019.00210
PMCID:
PMC6546804
AbstractArticlePDF–3.5M
6.
Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report
Ahmed Omran, Shaimaa Sahmoud, Jing Peng, Usman Ashhab, Fei Yin
J Med Case Rep. 2012; 6: 168. Published online 2012 Jun 28. doi: 10.1186/1752-1947-6-168
PMCID:
PMC3404954
AbstractArticlePDF–1.0M
7.
Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles
Catarina Monteiro, Ana Gonçalves, Jorge Oliveira, Ramon Salvado, Jorge Tomaz, Sara Morais, Margarida Lima, Rosário Santos
Int J Mol Sci. 2022 Sep; 23(17): 9621. Published online 2022 Aug 25. doi: 10.3390/ijms23179621
PMCID:
PMC9455669
AbstractArticlePDF–782K
8.
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska
BMC Med Genet. 2013; 14: 13. Published online 2013 Jan 24. doi: 10.1186/1471-2350-14-13
PMCID:
PMC3576294
AbstractArticlePDF–966K
9.
A case of the orocraniodigital (Juberg-Hayward) syndrome.
N C Nevin, P Henry, P T Thomas
J Med Genet. 1981 Dec; 18(6): 478–480. doi: 10.1136/jmg.18.6.478
PMCID:
PMC1048801
SummaryPage BrowsePDF–790K

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