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Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX females
Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX females
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Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX females

Nielsen, Morten Muhlig ; Trolle, Christian ; Vang, Søren ; Hornshøj, Henrik ; Skakkebæk, Anne ; Hedegaard, Jakob ; Nordentoft, Iver ; Pedersen, Jakob Skou ; Gravholt, Claus Højbjerg

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.279-293

Hoboken, USA: John Wiley & Sons, Inc

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2
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Berglund, Agnethe ; Viuff, Mette Hansen ; Skakkebæk, Anne ; Chang, Simon ; Stochholm, Kirstine ; Gravholt, Claus Højbjerg

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome

Sybert, V P

Journal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Genetic counseling for sex chromosome abnormalities
Genetic counseling for sex chromosome abnormalities
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Genetic counseling for sex chromosome abnormalities

Linden, Mary G. ; Bender, Bruce G. ; Robinson, Arthur

American journal of medical genetics, 2002-06, Vol.110 (1), p.3-10 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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5
The transcription factor E2F1 and the SR protein SC35 control the ratio of pro-angiogenic versus antiangiogenic isoforms of vascular endothelial growth factor-A to inhibit neovascularization in vivo
The transcription factor E2F1 and the SR protein SC35 control the ratio of pro-angiogenic versus antiangiogenic isoforms of vascular endothelial growth factor-A to inhibit neovascularization in vivo
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The transcription factor E2F1 and the SR protein SC35 control the ratio of pro-angiogenic versus antiangiogenic isoforms of vascular endothelial growth factor-A to inhibit neovascularization in vivo

Merdzhanova, G ; Gout, S ; Keramidas, M ; Edmond, V ; Coll, J-L ; Brambilla, C ; Brambilla, E ; Gazzeri, S ; Eymin, B

Oncogene, 2010-09, Vol.29 (39), p.5392-5403 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
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Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

Mazloom, Amin R. ; Džakula, Željko ; Oeth, Paul ; Wang, Huiquan ; Jensen, Taylor ; Tynan, John ; McCullough, Ron ; Saldivar, Juan-Sebastian ; Ehrich, Mathias ; van den Boom, Dirk ; Bombard, Allan T. ; Maeder, Margo ; McLennan, Graham ; Meschino, Wendy ; Palomaki, Glenn E. ; Canick, Jacob A. ; Deciu, Cosmin

Prenatal diagnosis, 2013-06, Vol.33 (6), p.591-597 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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7
Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy
Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy
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Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy

Shaffer, Brian L. ; Caughey, Aaron B. ; Norton, Mary E.

Prenatal diagnosis, 2006-08, Vol.26 (8), p.667-671 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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8
Is the prevalence of Klinefelter syndrome increasing?
Is the prevalence of Klinefelter syndrome increasing?
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Is the prevalence of Klinefelter syndrome increasing?

MORRIS, Joan K ; ALBERMAN, Eva ; SCOTT, Claire ; JACOBS, Patricia

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.163-170 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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9
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome
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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

Harbuz, Radu ; Lespinasse, James ; Boulet, Stéphanie ; Francannet, Christine ; Creveaux, Isabelle ; Benkhelifa, Mariem ; Jouk, Pierre-Simon ; Lunardi, Joël ; Ray, Pierre F.

Prenatal diagnosis, 2010-11, Vol.30 (11), p.1072-1078 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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10
Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction
Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction
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Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction

Robinson, Wendy P. ; Peñaherrera, Maria S. ; Jiang, Ruby ; Avila, Luana ; Sloan, Jennifer ; McFadden, Deborah E. ; Langlois, Sylvie ; von Dadelszen, Peter

Prenatal diagnosis, 2010-01, Vol.30 (1), p.1-8 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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