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Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention
Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention
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Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention

Bouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Wilson, Rebecca L. ; Van der velde, Kim ; van Rijn, Sophie

European child & adolescent psychiatry, 2023-11, Vol.32 (11), p.2323-2334 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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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
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
‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with sex chromosome aneuploidies
‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with sex chromosome aneuploidies
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‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with sex chromosome aneuploidies

Thompson, Talia ; Stinnett, Nicole ; Tartaglia, Nicole ; Davis, Shanlee ; Janusz, Jennifer

Journal of research in special educational needs, 2022-04, Vol.22 (2), p.175-187 [Periódico revisado por pares]

England: Wiley

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4
Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences
Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences
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Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences

Riggan, Kirsten A. ; Gross, Brianna ; Close, Sharron ; Weinberg, Abigail ; Allyse, Megan A.

Journal of genetic counseling, 2021-10, Vol.30 (5), p.1407-1417 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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5
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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6
Sex chromosome aneuploidies in 2020—The state of care and research in the world
Sex chromosome aneuploidies in 2020—The state of care and research in the world
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Sex chromosome aneuploidies in 2020—The state of care and research in the world

Gravholt, Claus H. ; Tartaglia, Nicole ; Disteche, Christine

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.197-201

Hoboken, USA: John Wiley & Sons, Inc

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7
Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates
Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates
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Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates

Ibarra-Ramírez, Marisol ; Lugo-Trampe, José de Jesús ; Campos-Acevedo, Luis Daniel ; Zamudio-Osuna, Michelle ; Torres-Muñoz, Iris ; Gómez-Puente, Viviana ; García-Castañeda, Gloria ; Arredondo-Vázquez, Patricia ; Rodríguez-Sánchez, Irám Pablo ; Schaeffer, S Elisa ; Velasco-Sepúlveda, Braulio Hernán ; Villarreal-Pérez, Jesús Zacarías ; Martínez-de-Villarreal, Laura Elia

Genetic testing and molecular biomarkers, 2020-06, Vol.24 (6), p.352-358 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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8
Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child
Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child
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Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child

Riggan, Kirsten A. ; Close, Sharron ; Allyse, Megan A.

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.404-413

Hoboken, USA: John Wiley & Sons, Inc

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9
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention
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Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention

Tartaglia, Nicole ; Howell, Susan ; Davis, Shanlee ; Kowal, Karen ; Tanda, Tanea ; Brown, Mariah ; Boada, Cristina ; Alston, Amanda ; Crawford, Leah ; Thompson, Talia ; Rijn, Sophie ; Wilson, Rebecca ; Janusz, Jennifer ; Ross, Judith

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.428-443

Hoboken, USA: John Wiley & Sons, Inc

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10
Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression
Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression
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Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression

Ross, Judith L. ; Bloy, Luke ; Roberts, Timothy P. L. ; Miller, Judith ; Xing, Chao ; Silverman, Lawrence A. ; Zinn, Andrew R.

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2019-10, Vol.180 (7), p.471-482 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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