Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 237,332,198 papers from all fields of science
Search
Sign In
Create Free Account
Proband (finding)
Known as:
proband
, probands
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
5 relations
Genetic screening method
Proposita
Propositus
family genetics
Expand
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
A NEW FORM OF INHERITED THROMBOCYTOPENIA CAUSED BY LOSS-OF-FUNCTION MUTATIONS IN PTPRJ
C. Marconi
,
C. D. Buduo
,
+17 authors
A. Pecci
2018
Corpus ID: 58602546
1 Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy. 2 Department of Molecular Medicine…
Expand
2005
2005
Allgemeine Grundlagen der neurologischen Begutachtung
P. Marx
,
P. Gaidzik
,
+4 authors
U. Meier
2005
Corpus ID: 42023132
P. Marx, Terrassenstr. 45, 14129 Berlin P. W. Gaidzik, Institut f. Medizinrecht, Universität Witten/Herdecke, Alfred-Herrhausen…
Expand
2003
2003
Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?
M. Bonaglia
,
R. Giorda
,
+4 authors
O. Zuffardi
Journal of Medical Genetics
2003
Corpus ID: 31020689
Several papers have recently shown that 6–7% of retarded patients with unclassified malformation syndromes and normal routine…
Expand
2001
2001
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation
E. Borgione
,
M. Giudice
,
+5 authors
M. Fichera
Journal of Medical Genetics
2001
Corpus ID: 10248687
Editor—The genetic causes of mental retardation are still largely unknown so that about 34% of cases of severe to moderate and 80…
Expand
1997
1997
The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
A. Slavotinek
,
E. Maher
,
P. Gregory
,
P. Rowlandson
,
S. Huson
Journal of Medical Genetics
1997
Corpus ID: 28710846
We report a family in which the proband has a direct insertion of band 7q21.3 into chromosome 22 at 22q13.3, karyotype 46,XX,dir…
Expand
1991
1991
Child naevus is not ILVEN.
R. Happle
Journal of Medical Genetics
1991
Corpus ID: 21995754
but on examination of the marriage certificates of these two sibs the names of their parents were found to be identical, and…
Expand
1991
1991
Systemic lupus erythematosus: a family study of 25 probands.
E. Sato
,
E. Atra
,
Astrik L. Gabriel
,
A. Masi
Clinical and Experimental Rheumatology
1991
Corpus ID: 46646887
We studied 120 first-degree relatives (FDRs) of 25 systemic lupus erythematosus (SLE) probands and 59 non-genetically associated…
Expand
Review
1987
Review
1987
Angelman (happy puppet) syndrome in a girl and her brother.
J. Fisher
,
J. Burn
,
F W Alexander
,
D. Gardner-Medwin
Journal of Medical Genetics
1987
Corpus ID: 420787
We report a girl aged 11 and her brother aged five, both with the typical features of Angelman syndrome, and three isolated cases…
Expand
1985
1985
Analysis of idiotope variability as a function of distance from the binding site for anti-streptococcal group A carbohydrate antibodies.
N. Greenspan
,
J. Davie
Journal of Immunology
1985
Corpus ID: 26090120
We have extended our analysis of rat monoclonal anti-idiotopes (anti-Id) specific for previously mapped binding site-associated…
Expand
1981
1981
Familial variant of dermatofibroma with malignancy in the proband.
J. Roberts
,
E. Byrne
,
D. Rosenthal
Archives of Dermatology
1981
Corpus ID: 34416993
Multiple fibrous histiocytomas of the dermis (dermatofibromas) were found in six males of one family. A number of the tumors fell…
Expand