Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion-Reference-Cited by-同舟云学术

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

Published:2015-04-28 Issue:1 Volume:8 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Tassano Elisa,Mirabelli-Badenier Marisol,Veneselli Edvige,Puliti Aldamaria,Lerone Margherita,Vaccari Carlotta Maria,Morana Giovanni,Porta Simona,Gimelli Giorgio,Cuoco Cristina

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-015-0134-7.pdf

Reference23 articles.

1. Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, et al. New insights into the phenotypes of 6q deletions. Am J Med Genet. 1997;70:377–86.

2. Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, et al. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet. 2008;16:1443–9.

3. Derwińska K, Bernaciak J, Wiśniowiecka-Kowalnik B, Obersztyn E, Bocian E, Stankiewicz P. Autistic features with speech delay in a girl with an approximately 1.5-Mb deletion in 6q16.1, including GPR63 and FUT9. Clin Genet. 2009;75:199–202.

4. Grati FR, Lalatta F, Turolla L, Cavallari U, Gentilin B, Rossella F, et al. Three cases with de novo 6q imbalance and variable prenatal phenotype. Am J Med Genet A. 2005;136:254–8.

5. Hansson K, Szuhai K, Knijnenburg J, van Haeringen A, de Pater J. Interstitial deletion of 6q without phenotypic effect. Am J Med Genet A. 2007;143:1354–7.

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review;Frontiers in Genetics;2024-02-06

2. A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome;CSH MOL CASE STUD;2022

3. Specificity of time- and dose-dependent morphological endpoints in the fish embryo acute toxicity (FET) test for substances with diverse modes of action: the search for a “fingerprint”;Environmental Science and Pollution Research;2021-10-13

4. Occhio all’asimmetria toracica alla nascita... e se fosse la sindrome di Poland?;Medico e Bambino pagine elettroniche;2021-06-30

5. Tcf4 is required for correct brain development during embryogenesis;Molecular and Cellular Neuroscience;2020-07