Literature DB >> 11303519

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome.

E M Bongers, H Van Bokhoven, M N Van Thienen, M A Kooyman, S E Van Beersum, C Boetes, N V Knoers, B C Hamel.   

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Year:  2001        PMID： 11303519      PMCID： PMC1734819          DOI： 10.1136/jmg.38.3.209

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

Authors:  David M Alvarado; Hyuliya Aferol; Kevin McCall; Jason B Huang; Matthew Techy; Jillian Buchan; Janet Cady; Patrick R Gonzales; Matthew B Dobbs; Christina A Gurnett
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

2.  Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

Authors:  Ariana Kariminejad; Emmanuelle Szenker-Ravi; Caroline Lekszas; Homa Tajsharghi; Ali-Reza Moslemi; Thomas Naert; Hong Thi Tran; Fatemeh Ahangari; Minoo Rajaei; Mojila Nasseri; Thomas Haaf; Afrooz Azad; Andrea Superti-Furga; Reza Maroofian; Siavash Ghaderi-Sohi; Hossein Najmabadi; Mohammad Reza Abbaszadegan; Kris Vleminckx; Pooneh Nikuei; Bruno Reversade
Journal:  Am J Hum Genet       Date:  2019-11-21       Impact factor: 11.025

3.  Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

Authors:  Christina A Gurnett; Farhang Alaee; Lisa M Kruse; David M Desruisseau; Jacqueline T Hecht; Carol A Wise; Anne M Bowcock; Matthew B Dobbs
Journal:  Am J Hum Genet       Date:  2008-10-23       Impact factor: 11.025

4.  Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

Authors:  Blake C Ballif; Aaron Theisen; Jill A Rosenfeld; Ryan N Traylor; Julie Gastier-Foster; Devon Lamb Thrush; Caroline Astbury; Dennis Bartholomew; Kim L McBride; Robert E Pyatt; Kate Shane; Wendy E Smith; Valerie Banks; William B Gallentine; Pamela Brock; M Katharine Rudd; Margaret P Adam; Julia A Keene; John A Phillips; Jean P Pfotenhauer; Gordon C Gowans; Pawel Stankiewicz; Bassem A Bejjani; Lisa G Shaffer
Journal:  Am J Hum Genet       Date:  2010-03-04       Impact factor: 11.025

5.  Mutations in the human TBX4 gene cause small patella syndrome.

Authors:  Ernie M H F Bongers; Pascal H G Duijf; Sylvia E M van Beersum; Jeroen Schoots; Albert Van Kampen; Andreas Burckhardt; Ben C J Hamel; Frantisek Losan; Lies H Hoefsloot; Helger G Yntema; Nine V A M Knoers; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2004-04-21       Impact factor: 11.025

Review 6.  Diseases associated with defective responses to DNA damage.

Authors:  Mark O'Driscoll
Journal:  Cold Spring Harb Perspect Biol       Date:  2012-12-01       Impact factor: 10.005

7.  Transcriptome dynamics of long noncoding RNAs and transcription factors demarcate human neonatal, adult, and human mesenchymal stem cell-derived engineered cartilage.

Authors:  Daniel J Vail; Rodrigo A Somoza; Arnold I Caplan; Ahmad M Khalil
Journal:  J Tissue Eng Regen Med       Date:  2019-12-18       Impact factor: 3.963

8.  Genetic basis of hindlimb loss in a naturally occurring vertebrate model.

Authors:  Emily K Don; Tanya A de Jong-Curtain; Karen Doggett; Thomas E Hall; Benjamin Heng; Andrew P Badrock; Claire Winnick; Garth A Nicholson; Gilles J Guillemin; Peter D Currie; Daniel Hesselson; Joan K Heath; Nicholas J Cole
Journal:  Biol Open       Date:  2016-02-18       Impact factor: 2.422

9.  A Novel Heterozygous Mutation in the T-box Protein 4 Gene in an Adult Case of Small Patella Syndrome.

Authors:  Tomoyuki Oda; Masaki Matsushita; Yohei Ono; Hiroshi Kitoh; Tadahiro Sakai
Journal:  J Orthop Case Rep       Date:  2018 Jan-Feb

10.  A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn.

Authors:  Sindhu Barola; Allison M Parrill; Samaan Mahmoudzadeh; Peyman Bizargity; Rita Verma
Journal:  Cureus       Date:  2022-03-18
  10 in total

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