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Refinado por: Nome da Publicação: American Journal of Medical Genetics (Neuropsychiatric Genetics) remover assunto: Chromosome Aberrations remover
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Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation
Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation
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Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation

Akiyama, Masaharu ; Kawame, Hiroshi ; Ohashi, Hirofumi ; Tohma, Takaya ; Ohta, Hidemi ; Shishikura, Akihiro ; Miyata, Ichiro ; Usui, Nobuo ; Eto, Yoshikatsu

American journal of medical genetics, 2001-03, Vol.99 (2), p.111-114

New York: John Wiley & Sons, Inc

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2
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter
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Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter

Sarri, C. ; Gyftodimou, J. ; Avramopoulos, D. ; Grigoriadou, M. ; Pedersen, W. ; Pandelia, E. ; Pangalos, C. ; Abazis, D. ; Kitsos, G. ; Vassilopoulos, D. ; Brøndum-Nielsen, K. ; Petersen, M. B.

American journal of medical genetics, 1997-05, Vol.70 (1), p.87-94 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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3
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
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Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

Bacino, Carlos A. ; Kashork, Catherine D. ; Davino, Nelson A. ; Shaffer, Lisa G.

American journal of medical genetics, 2000-06, Vol.92 (4), p.250-255

New York: John Wiley & Sons, Inc

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4
Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin
Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin
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Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin

Hoo, Joe J. ; Chao, Margaret ; Szego, Katarina ; Rauer, Mary ; Echiverri, Susan C. ; Harris, Catherine

American journal of medical genetics, 1995-09, Vol.58 (4), p.299-304

New York: Wiley Subscription Services, Inc., A Wiley Company

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5
Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24‐q25 due to a terminal duplication
Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24‐q25 due to a terminal duplication
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Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24‐q25 due to a terminal duplication

Kelly, Brendan D. ; Becker, Kristin ; Kermode, Victoria ; Stallings, Raymond L. ; Murphy, Raymond P. ; Green, Andrew J. ; Hillery, John

American journal of medical genetics, 2002-10, Vol.112 (2), p.217-220

New York: Wiley Subscription Services, Inc., A Wiley Company

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6
De novo inverted interstitial ("mirror") duplication of chromosome 8(q13→q24.1) in a liveborn male
De novo inverted interstitial ("mirror") duplication of chromosome 8(q13→q24.1) in a liveborn male
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De novo inverted interstitial ("mirror") duplication of chromosome 8(q13→q24.1) in a liveborn male

Donnenfeld, Alan E. ; Coyne, Michael D. ; Beauregard, Laurent J.

American journal of medical genetics, 1990-04, Vol.35 (4), p.529-531

New York: Wiley Subscription Services, Inc., A Wiley Company

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