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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
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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2
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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3
Sex-chromosome dosage effects on gene expression in humans
Sex-chromosome dosage effects on gene expression in humans
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Sex-chromosome dosage effects on gene expression in humans

Raznahan, Armin ; Parikshak, Neelroop N. ; Chandran, Vijay ; Blumenthal, Jonathan D. ; Clasen, Liv S. ; Alexander-Bloch, Aaron F. ; Zinn, Andrew R. ; Wangsa, Danny ; Wise, Jasen ; Murphy, Declan G. M. ; Bolton, Patrick F. ; Ried, Thomas ; Ross, Judith ; Giedd, Jay N. ; Geschwind, Daniel H.

Proceedings of the National Academy of Sciences - PNAS, 2018-07, Vol.115 (28), p.7398-7403 [Periódico revisado por pares]

United States: National Academy of Sciences

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4
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Oetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D H

Nature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Comparative Genomic Hybridization Using Oligonucleotide Microarrays and Total Genomic DNA
Comparative Genomic Hybridization Using Oligonucleotide Microarrays and Total Genomic DNA
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Comparative Genomic Hybridization Using Oligonucleotide Microarrays and Total Genomic DNA

Barrett, Michael T. ; Scheffer, Alicia ; Ben-Dor, Amir ; Sampas, Nick ; Lipson, Doron ; Kincaid, Robert ; Tsang, Peter ; Curry, Bo ; Baird, Kristin ; Meltzer, Paul S. ; Yakhini, Zohar ; Bruhn, Laurakay ; Laderman, Stephen ; Caruthers, Marvin H.

Proceedings of the National Academy of Sciences - PNAS, 2004-12, Vol.101 (51), p.17765-17770 [Periódico revisado por pares]

United States: National Academy of Sciences

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6
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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7
The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties
The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties
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The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties

Monkhorst, Kim ; de Hoon, Bas ; Jonkers, Iris ; Mulugeta Achame, Eskeatnaf ; Monkhorst, Wouter ; Hoogerbrugge, Jos ; Rentmeester, Eveline ; Westerhoff, Hans V ; Grosveld, Frank ; Grootegoed, J Anton ; Gribnau, Joost Freitag, Michael

PloS one, 2009-05, Vol.4 (5), p.e5616-e5616 [Periódico revisado por pares]

United States: Public Library of Science

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8
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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9
Recombinant human VEGF165b inhibits experimental choroidal neovascularization
Recombinant human VEGF165b inhibits experimental choroidal neovascularization
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Recombinant human VEGF165b inhibits experimental choroidal neovascularization

Hua, Jing ; Spee, Christine ; Kase, Satoru ; Rennel, Emma S ; Magnussen, Anette L ; Qiu, Yan ; Varey, Alex ; Dhayade, Sandeep ; Churchill, Amanda J ; Harper, Steven J ; Bates, David O ; Hinton, David R

Investigative ophthalmology & visual science, 2010-08, Vol.51 (8), p.4282-4288 [Periódico revisado por pares]

United States: Association for Research in Vision and Ophthalmology, Inc

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10
Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies
Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies
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Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Green, Tamar ; Flash, Shira ; Reiss, Allan L

Neuropsychopharmacology (New York, N.Y.), 2019-01, Vol.44 (1), p.9-21 [Periódico revisado por pares]

England: Nature Publishing Group

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