Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization-Reference-Cited by-同舟云学术

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

Published:2015-02-25 Issue:5 Volume:167 Page:1018-1025
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

García-Santiago Fe Amalia¹,Martínez-Glez Víctor²³,Santos Fernando⁴³,García-Miñaur Sixto⁴³,Mansilla Elena¹³,Meneses Antonio González⁵,Rosell Jordi³⁶,Granero Ángeles Pérez⁶,Vallespín Elena²³,Fernández Luis²³,Sierra Blanca⁶,Oliver-Bonet María⁷,Palomares María²³,de Torres María Luisa¹³,Mori María Ángeles²³,Nevado Julián²³,Heath Karen E.⁸³,Delicado Alicia¹³,Lapunzina Pablo⁴³

Affiliation:

1. Cytogenetics Unit, Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz; Madrid Spain

2. Functional and Structural Genomics Unit, Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz; Madrid Spain

3. CIBERER; Centro de Investigación Biomédica en Red de Enfermedades Raras; ISCIII; Madrid Spain

4. Clinical Gentics Unit, Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz; Madrid Spain

5. Dysmorphology Unit; Hospital Virgen del Rocío; Sevilla Spain

6. Genetics Unit; Hospital Son Espases; Palma de Mallorca; Spain

7. Research Unit; Hospital Son Espases; Palma de Mallorca; Spain

8. Molecular Endocrinology Unit, Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz; Madrid Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36879/fullpdf

Reference27 articles.

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1. Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns;Journal of Human Genetics;2023-07-10

2. Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis;Acta Obstetricia et Gynecologica Scandinavica;2023-06-27

3. A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss;Journal of Clinical Medicine;2023-01-07

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5. Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of “8p Inverted Duplication/Deletion Syndrome”;Biomedicines;2022-02-28