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Congenital chromosomal disease
Known as:
Abnormalities, Chromosomal
, Chromosome Abnormality Disorder
, Disorder, Chromosomal
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Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome…
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National Institutes of Health
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Related topics
Related topics
50 relations
Narrower (41)
15q24 Microdeletion
16p11.2 Deletion Syndrome
22q13.3 Deletion Syndrome
47, XYY syndrome
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Autosome Abnormalities
Chromosome Aberrations
Cytogenetics
In Blood
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Broader (1)
Hereditary Diseases
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T. Miller
,
M. Adam
,
+30 authors
D. Ledbetter
American Journal of Human Genetics
2010
Corpus ID: 11710459
Highly Cited
2010
Highly Cited
2010
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in…
D. Grimwade
,
R. Hills
,
+6 authors
A. Burnett
Blood
2010
Corpus ID: 206886741
Diagnostic karyotype provides the framework for risk-stratification schemes in acute myeloid leukemia (AML); however, the…
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Review
2009
Review
2009
The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes.
J. Vardiman
,
J. Thiele
,
+8 authors
C. Bloomfield
Blood
2009
Corpus ID: 3101472
Recently the World Health Organization (WHO), in collaboration with the European Association for Haematopathology and the Society…
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Highly Cited
2006
Highly Cited
2006
Clinical application and proposal for modification of the International Working Group (IWG) response criteria in myelodysplasia.
B. Cheson
,
P. Greenberg
,
+12 authors
H. Kantarjian
Blood
2006
Corpus ID: 10027544
The myelodysplastic syndromes (MDSs) are heterogeneous with respect to clinical characteristics, pathologic features, and…
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Highly Cited
2000
Highly Cited
2000
Genomic aberrations and survival in chronic lymphocytic leukemia.
H. Döhner
,
S. Stilgenbauer
,
+6 authors
P. Lichter
New England Journal of Medicine
2000
Corpus ID: 26450188
BACKGROUND Fluorescence in situ hybridization has improved the detection of genomic aberrations in chronic lymphocytic leukemia…
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Highly Cited
1998
Highly Cited
1998
The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties.
By David Grimwade
,
H. Walker
,
+8 authors
A. Goldstone
Blood
1998
Corpus ID: 9192693
Cytogenetics is considered one of the most valuable prognostic determinants in acute myeloid leukemia (AML). However, many…
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Highly Cited
1996
Highly Cited
1996
Catalog of Chromosome Aberrations in Cancer
L. Secker-Walker
British Journal of Cancer
1996
Corpus ID: 46825302
We present here because it will be so easy for you to access the internet service. As in this new era, much technology is…
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Highly Cited
1996
Highly Cited
1996
Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia
C. Barlow
,
S. Hirotsune
,
+8 authors
A. Wynshaw-Boris
Cell
1996
Corpus ID: 11922073
Highly Cited
1995
Highly Cited
1995
Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL).
M. Béné
,
G. Castoldi
,
+4 authors
M. V. Veer
Leukemia
1995
Corpus ID: 11835095
Criteria for the immunological classification of acute leukemias are proposed by a recently established European group designated…
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Highly Cited
1991
Highly Cited
1991
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
Carolyn J. Brown
,
A. Ballabio
,
+4 authors
H. Willard
Nature
1991
Corpus ID: 4332325
X-chromosome inactivation results in the cis-limited dosage compensation of genes on one of the pair of X chromosomes in…
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