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An emerging link between lncRNAs and cancer sex dimorphism
An emerging link between lncRNAs and cancer sex dimorphism
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An emerging link between lncRNAs and cancer sex dimorphism

Naciri, Ikrame ; Andrade-Ludena, Maria D. ; Yang, Ying ; Kong, Mei ; Sun, Sha

Human genetics, 2024-07, Vol.143 (7), p.831-842 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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2
Trisomy silencing by XIST: translational prospects and challenges
Trisomy silencing by XIST: translational prospects and challenges
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Trisomy silencing by XIST: translational prospects and challenges

Gupta, Khusali ; Czerminski, Jan T. ; Lawrence, Jeanne B.

Human genetics, 2024-07, Vol.143 (7), p.843-855 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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3
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation
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Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

McTiernan, Nina ; Tranebjærg, Lisbeth ; Bjørheim, Anna S. ; Hogue, Jacob S. ; Wilson, William G. ; Schmidt, Berkley ; Boerrigter, Melissa M. ; Nybo, Maja L. ; Smeland, Marie F. ; Tümer, Zeynep ; Arnesen, Thomas

Human genetics, 2022-08, Vol.141 (8), p.1355-1369 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Identification of aneuploidy in dogs screened by a SNP microarray
Identification of aneuploidy in dogs screened by a SNP microarray
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Identification of aneuploidy in dogs screened by a SNP microarray

Shaffer, Lisa G. ; Hopp, Bradley ; Switonski, Marek ; Zahand, Adam ; Ballif, Blake C.

Human genetics, 2021-11, Vol.140 (11), p.1619-1624 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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5
Recollections of a scientific journey published in human genetics: from chromosome territories to interphase cytogenetics and comparative genome hybridization
Recollections of a scientific journey published in human genetics: from chromosome territories to interphase cytogenetics and comparative genome hybridization
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Recollections of a scientific journey published in human genetics: from chromosome territories to interphase cytogenetics and comparative genome hybridization

Cremer, Thomas ; Cremer, Christoph ; Lichter, Peter

Human genetics, 2014-04, Vol.133 (4), p.403-416 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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6
Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss
Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss
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Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss

Hook, Ernest B. ; Warburton, Dorothy

Human genetics, 2014-04, Vol.133 (4), p.417-424 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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7
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction
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Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction

Borel, Christelle ; Cheung, Fanny ; Stewart, Helen ; Koolen, David A. ; Phillips, Christopher ; Thomas, N. Simon ; Jacobs, Patricia A. ; Eliez, Stephan ; Sharp, Andrew J.

Human genetics, 2012-09, Vol.131 (9), p.1519-1524 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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8
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
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Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

Armengol, Lluís ; Nevado, Julián ; Serra-Juhé, Clara ; Plaja, Alberto ; Mediano, Carmen ; García-Santiago, Fe Amalia ; García-Aragonés, Manel ; Villa, Olaya ; Mansilla, Elena ; Preciado, Cristina ; Fernández, Luis ; Mori, María Ángeles ; García-Pérez, Lidia ; Lapunzina, Pablo Daniel ; Pérez-Jurado, Luis Alberto

Human genetics, 2012-03, Vol.131 (3), p.513-523 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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9
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
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Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Hayashi, Shin ; Okamoto, Nobuhiko ; Chinen, Yasutsugu ; Takanashi, Jun-ichi ; Makita, Yoshio ; Hata, Akira ; Imoto, Issei ; Inazawa, Johji

Human genetics, 2012, Vol.131 (1), p.99-110 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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10
Genes that escape from X inactivation
Genes that escape from X inactivation
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Genes that escape from X inactivation

Berletch, Joel B. ; Yang, Fan ; Xu, Jun ; Carrel, Laura ; Disteche, Christine M.

Human genetics, 2011-08, Vol.130 (2), p.237-245 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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