The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Carolina S. Fonseca; Adriano Bonaldi; Simone A. S. Fonseca; Paulo A. Otto; Fernando Kok; Mads Bak; Niels Tommerup; Angela M. Vianna-Morgante

doi:10.1186/s13039-015-0205-9

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Carolina S. Fonseca, Adriano Bonaldi, Simone A. S. Fonseca, Paulo A. Otto, Fernando Kok, Mads Bak, Niels Tommerup, Angela M. Vianna-Morgante

3 Citationer (Scopus)

Originalsprog	Engelsk
Artikelnummer	106
Tidsskrift	Molecular Cytogenetics
Vol/bind	8
Sider (fra-til)	1-10
Antal sider	10
ISSN	1755-8166
DOI	https://doi.org/10.1186/s13039-015-0205-9
Status	Udgivet - 30 dec. 2015

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10.1186/s13039-015-0205-9

Citationsformater

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation. / Fonseca, Ana Carolina S.; Bonaldi, Adriano; Fonseca, Simone A. S. et al.

I: Molecular Cytogenetics, Bind 8, 106, 30.12.2015, s. 1-10.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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title = "The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation",

keywords = "Familial karyotypically balanced translocation, 5q23.2-23.3 duplication, LMNB1 duplication, 2p14 deletion, CEP68, RAB1A and ACTR2 deletion, 2p14p15 microdeletion syndrome",

author = "Fonseca, {Ana Carolina S.} and Adriano Bonaldi and Fonseca, {Simone A. S.} and Otto, {Paulo A.} and Fernando Kok and Mads Bak and Niels Tommerup and Vianna-Morgante, {Angela M.}",

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AU - Fonseca, Ana Carolina S.

AU - Bonaldi, Adriano

AU - Fonseca, Simone A. S.

AU - Otto, Paulo A.

AU - Kok, Fernando

AU - Bak, Mads

AU - Tommerup, Niels

AU - Vianna-Morgante, Angela M.

PY - 2015/12/30

Y1 - 2015/12/30

KW - Familial karyotypically balanced translocation

KW - 5q23.2-23.3 duplication

KW - LMNB1 duplication

KW - 2p14 deletion

KW - CEP68

KW - RAB1A and ACTR2 deletion

KW - 2p14p15 microdeletion syndrome

U2 - 10.1186/s13039-015-0205-9

DO - 10.1186/s13039-015-0205-9

M3 - Journal article

C2 - 26719771

SN - 1755-8166

VL - 8

SP - 1

EP - 10

JO - Molecular Cytogenetics

JF - Molecular Cytogenetics

M1 - 106

ER -

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

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