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Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis
Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis
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Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis

Nicolaides, Kypros H. ; Musci, Thomas J. ; Struble, Craig A. ; Syngelaki, Argyro ; Gil, M.M.

Fetal diagnosis and therapy, 2014-02, Vol.35 (1), p.1-6 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing
Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing
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Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

Bianchi, Diana W ; Platt, Lawrence D ; Goldberg, James D ; Abuhamad, Alfred Z ; Sehnert, Amy J ; Rava, Richard P

Obstetrics and gynecology (New York. 1953), 2012-05, Vol.119 (5), p.890-901 [Periódico revisado por pares]

Hagerstown, MD: The American College of Obstetricians and Gynecologists

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3
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing
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Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

Liao, Can ; Yin, Ai-hua ; Peng, Chun-fang ; Fu, Fang ; Yang, Jie-xia ; Li, Ru ; Chen, Yang-yi ; Luo, Dong-hong ; Zhang, Yong-ling ; Ou, Yan-mei ; Li, Jian ; Wu, Jing ; Mai, Ming-qin ; Hou, Rui ; Wu, Frances ; Luo, Hongrong ; Li, Dong-zhi ; Liu, Hai-liang ; Zhang, Xiao-zhuang ; Zhang, Kang

Proceedings of the National Academy of Sciences - PNAS, 2014-05, Vol.111 (20), p.7415-7420 [Periódico revisado por pares]

United States: National Academy of Sciences

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4
Measured parental height in Turner syndrome—a valuable but underused diagnostic tool
Measured parental height in Turner syndrome—a valuable but underused diagnostic tool
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Measured parental height in Turner syndrome—a valuable but underused diagnostic tool

Ouarezki, Yasmine ; Cizmecioglu, Filiz Mine ; Mansour, Chourouk ; Jones, Jeremy Huw ; Gault, Emma Jane ; Mason, Avril ; Donaldson, Malcolm D. C.

European journal of pediatrics, 2018-02, Vol.177 (2), p.171-179 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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5
Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions
Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions
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Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions

Zhu, Jiansheng ; Liu, Hui ; Tang, Junxiang ; Riaz Khan, Muhammad ; Wang, Baolong ; Bukhari, Ihtisham

British journal of biomedical science, 2016-07, Vol.73 (2), p.67-73 [Periódico revisado por pares]

England: Taylor & Francis

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6
Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR
Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR
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Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR

Kong, Xiangdong ; Li, Lin ; Sun, Lei ; Fu, Kepeng ; Long, Ju ; Weng, Xunjin ; Ye, Xuehe ; Liu, Xinxiong ; Wang, Bo ; Yan, Shanhuo ; Ye, Haiming ; Fan, Zuqian El-Maarri, Osman

PloS one, 2014-03, Vol.9 (3), p.e88932-e88932 [Periódico revisado por pares]

United States: Public Library of Science

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7
Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases
Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases
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Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases

Braha, Elena ; Martiniuc, Violeta ; Panzaru, Monica ; Caba, Lavinia ; Butnariu, Lăcrămioara ; Onofriescu, M ; Socolov, Demetra ; Grigore, Mihaela ; Nemescu, D ; Mihălceanu, Elena ; Iliev, G ; Gorduza, E V

Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi, 2013-04, Vol.117 (2), p.450 [Periódico revisado por pares]

Romania

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8
Changes in nuchal translucency thickness in normal and abnormal karyotype fetuses
Changes in nuchal translucency thickness in normal and abnormal karyotype fetuses
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Changes in nuchal translucency thickness in normal and abnormal karyotype fetuses

Zoppi, Maria A. ; Ibba, Rosa M. ; Floris, Marcella ; Manca, Fabiola ; Axiana, Carolina ; Monni, Giovanni

BJOG : an international journal of obstetrics and gynaecology, 2003-06, Vol.110 (6), p.584-588 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Ltd

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9
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
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Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

VAN OPSTAL, Diane ; BOTER, Marjan ; DE JONG, Danielle ; VAN DEN BERG, Cardi ; BRÜGGENWIRTH, Hennie T ; WILDSCHUT, Hajo I. J ; DE KLEIN, Annelies ; GALJAARD, Robert-Jan H

European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.112-121 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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10
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence
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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence

Xie, Xiaolei ; Tan, Weihe ; Li, Fuguang ; Carrano, Eric ; Ramirez, Paola ; DiAdamo, Autumn ; Grommisch, Brittany ; Amato, Katherine ; Chai, Hongyan ; Wen, Jiadi ; Li, Peining

Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1297-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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