Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities-Reference-Cited by-同舟云学术

Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities

Published:2016-10-06 Issue:1 Volume:9 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Dagklis Themistoklis,Papageorgiou Elena,Siomou Elisavet,Paspaliaris Vassilis,Zerva Christina,Chatzis Panagiotis,Thomaidis Loretta,Manolakos Emmanouil,Papoulidis Ioannis

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/s13039-016-0288-y.pdf

Reference16 articles.

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2. Martinez JE, Tuck-Muller CM, Gasparrini W, Li S, Wertelecki W. 1p microdeletion in sibs with minimal phenotypic manifestations. Am J Med Genet. 1999;15:107–9.

3. Vermeer S, Koolen DA, Visser G, Brackel HJ, van der Burgt I, de Leeuw N, Willemsen MA, Sistermans EA, Pfundt R, de Vries BB. A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. Dev Med Child Neurol. 2007;49:380–4.

4. Aktas D, Utine EG, Mrasek K, Weise A, von Eggeling F, Yalaz K, Posorski N, Akarsu N, Alikasifoglu M, Liehr T, Tuncbilek E. Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair. Mol Cytogenet. 2010;3(1):10. doi: 10.1186/1755-8166-3-10 .

5. Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet. 2010;47:81–90.

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