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Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case report
Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case report
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Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case report

Liang, Dong ; Han, Minmin ; Xu, Linxin ; Ren, Yi ; Zhang, Yi ; Yin, Jianhong ; Yang, Jing ; Liu, Yunfeng

Medicine (Baltimore), 2022-10, Vol.101 (43), p.e31443-e31443 [Periódico revisado por pares]

United States: Lippincott Williams & Wilkins

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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
False‐negative trisomy 18 non‐invasive prenatal test result due to 48,XXX,+18 placental mosaicism
False‐negative trisomy 18 non‐invasive prenatal test result due to 48,XXX,+18 placental mosaicism
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False‐negative trisomy 18 non‐invasive prenatal test result due to 48,XXX,+18 placental mosaicism

Gao, Y. ; Stejskal, D. ; Jiang, F. ; Wang, W.

Ultrasound in obstetrics & gynecology, 2014-04, Vol.43 (4), p.477-478 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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4
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study
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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study

Gruchy, Nicolas ; Blondeel, Eleonore ; Le Meur, Nathalie ; Joly-Hélas, Géraldine ; Chambon, Pascal ; Till, Marianne ; Herbaux, Martine ; Vigouroux-Castera, Adeline ; Coussement, Aurélie ; Lespinasse, James ; Amblard, Florence ; Jimenez Pocquet, Mélanie ; Lebel-Roy, Camille ; Carré-Pigeon, Frédérique ; Flori, Elisabeth ; Mugneret, Francine ; Jaillard, Sylvie ; Yardin, Catherine ; Harbuz, Radu ; Collonge-Rame, Marie-Agnès ; Vago, Philippe ; Valduga, Mylène ; Leporrier, Nathalie ; Vialard, François

Prenatal diagnosis, 2016-06, Vol.36 (6), p.523-529 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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5
Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY
Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY
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Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

TARTAGLIA, Nicole R ; AYARI, Natalie ; HUTAFF-LEE, Christa ; BOADA, Richard

Journal of developmental and behavioral pediatrics, 2012-05, Vol.33 (4), p.309-318 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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6
A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21

Li, Jin ; Xie, Mingshui ; Wang, Fang ; Ma, Jianhong ; Li, Jiafu ; Chen, Chen ; Li, Zhimin ; Wang, Juan ; Zhang, Yuanzhen ; Li, Yirong

Molecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1279-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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7
Spontaneous Sexual Development and Heavy Menstrual Bleeding in 45,X Monosomy and 45,X/47,XXX Mosaic Turner Syndrome and a Review of the Literature
Spontaneous Sexual Development and Heavy Menstrual Bleeding in 45,X Monosomy and 45,X/47,XXX Mosaic Turner Syndrome and a Review of the Literature
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Spontaneous Sexual Development and Heavy Menstrual Bleeding in 45,X Monosomy and 45,X/47,XXX Mosaic Turner Syndrome and a Review of the Literature

Kim, Myeong Jin ; Jeong, Hwal Rim

Journal of pediatric & adolescent gynecology, 2020-10, Vol.33 (5), p.602-606 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic Woman
Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic Woman
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Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic Woman

Takahashi, Tohru

Internal Medicine, 2014, Vol.53(7), pp.783-787 [Periódico revisado por pares]

Japan: The Japanese Society of Internal Medicine

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9
Mortality and incidence in women with 47,XXX and variants
Mortality and incidence in women with 47,XXX and variants
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Mortality and incidence in women with 47,XXX and variants

Stochholm, Kirstine ; Juul, Svend ; Gravholt, Claus Højbjerg

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.367-372 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature
Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature
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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Tang, Ruiyi ; Lin, Lin ; Guo, Zaixin ; Hou, Haiyan ; Yu, Qi

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00732-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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