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Refinado por: assunto: Genetics & Heredity remover xxx: xxx remover
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1
The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)
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The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)

Urbanus, Evelien ; Swaab, Hanna ; Tartaglia, Nicole ; Cordeiro, Lisa ; Rijn, Sophie

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.444-455

Hoboken, USA: John Wiley & Sons, Inc

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2
Early impact of X‐ and Y‐chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2‐year‐old children
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Early impact of X‐ and Y‐chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2‐year‐old children

Bouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Jansen, Anna C. ; Rijn, Sophie

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.1943-1953 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
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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4
A review of trisomy X (47,XXX)
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A review of trisomy X (47,XXX)

Tartaglia, Nicole R ; Howell, Susan ; Sutherland, Ashley ; Wilson, Rebecca ; Wilson, Lennie

Orphanet journal of rare diseases, 2010-05, Vol.5 (1), p.8-8, Article 8 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
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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6
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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7
A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysis
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A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysis

Cieslak, Jakub ; Mackowski, Mariusz ; Skrzetuska, Weronika ; Fidos-Tama, Ewa ; Siwinska, Natalia ; Szczerbal, Izabela

Journal of applied genetics, 2024-05, Vol.65 (2), p.395-398 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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8
Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY
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Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY

Ahlawat, Nivedita ; Elliott, Kathryn ; Ormond, Kelly E. ; Allyse, Megan A. ; Riggan, Kirsten A.

Journal of community genetics, 2024-02, Vol.15 (1), p.75-83 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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9
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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10
Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies
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Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies

Massara, Lucía S. ; Delea, Marisol ; Espeche, Lucía ; Bruque, Carlos D. ; Oliveri, Jaen ; Brun, Paloma ; Furforo, Lilian ; Dain, Liliana ; Rozental, Sandra

Cytogenetic and genome research, 2019-01, Vol.159 (3), p.137-142 [Periódico revisado por pares]

Basel, Switzerland

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