Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 227,741,299 papers from all fields of science
Search
Sign In
Create Free Account
Antley-Bixler Syndrome Phenotype
Known as:
Antley-Bixler Syndrome Phenotype [Disease/Finding]
, Antley Bixler Syndrome Phenotype
, Syndrome Phenotype, Antley-Bixler
Expand
An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
10 relations
Narrower (2)
Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant
Fibroblast Growth Factor Receptor 2
In Blood
Microbiological
NADPH-Ferrihemoprotein Reductase
Expand
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype
K. Hadzsiev
,
D. David
,
Gyula Szabó
,
M. Czakó
,
B. Melegh
,
G. Kosztolányi
Cytogenetic and Genome Research
2014
Corpus ID: 8383121
The patient reported here displayed most characteristic features of Binder syndrome (OMIM: 155050), a rare maxillonasal…
Expand
2009
2009
Ankyloglossia in Dogs: A Morphological and Immunohistochemical Study
S. Karahan
,
B. Çınar Kul
Anatomia, Histologia, Embryologia. Journal of…
2009
Corpus ID: 205441322
Ankyloglossia is a congenital anomaly of the tongue that is usually characterized by a short and thick lingual frenulum. The…
Expand
2007
2007
USE OF RECOMBINANT ERYTHROPOIETIN FOR THE MANAGEMENT OF SEVERE HEMOLYTIC DISEASE OF THE NEWBORN OF A K0 PHENOTYPE MOTHER
Antonia Manoura
,
Eftychia Korakaki
,
+6 authors
C. Giannakopoulou
Pediatric Hematology & Oncology
2007
Corpus ID: 1260510
Very few people do not express any Kell antigens on their red blood cells (K0 phenotype). They can be immunized by transfusion or…
Expand
2006
2006
Low doses of gamma ionizing radiation increase hprt mutant frequencies of TK6 cells without triggering the mutator phenotype pathway
F. Ayres
,
A. D. Cruz
,
P. P. Steele
,
B. Glickman
2006
Corpus ID: 86364149
The TK6 lymphoblastoid cell line is known to be mismatch repair (MMR) and p53 proficient. Deficiency in MMR results in a mutator…
Expand
2003
2003
Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation
Alan J. Wigg
,
Hugh Harley
,
G. Casey
Gut
2003
Corpus ID: 7121184
We observed the development of phenotypic hereditary haemochromatosis in a non-hereditary haemochromatosis liver transplant…
Expand
2003
2003
Distribution of the CCR5 Gene 32-Base Pair Deletion and CCR5 Expression in Chinese Minorities
T. Feng
,
A. Ni
,
Guocui Yang
,
S. Galvin
,
I. Hoffman
,
M. Cohen
Journal of Acquired Immune Deficiency Syndromes
2003
Corpus ID: 1833532
China has an ethnically diverse population. Genetic differences may contribute to disparities in the efficiency of HIV…
Expand
Review
2001
Review
2001
A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15)
E. Passarge
Cytogenetic and Genome Research
2001
Corpus ID: 24938539
This report describes a nearly 25-year-old female with an interstitial deletion of band 14 in the long arm of one chromosome 6…
Expand
1994
1994
Lack of association between maternal phosphoglucomutase‐1 phenotype and fetal macrosomia in diabetic pregnancy
F. Johnstone
,
J. West
,
+4 authors
R. Prescott
British Journal of Obstetrics and Gynaecology
1994
Corpus ID: 40908461
Objective To assess the reports that maternal phosphoglucomutase‐1 (PGM 1) phenotype is highly related to macrosomia in diabetic…
Expand
1986
1986
Further evidence for the lack of association between acetylator phenotype and systemic lupus erythematosus.
Alan N. Baer
,
Alan N. Baer
,
Raymond L. Woosley
,
Theodore Pincus
Arthritis & Rheumatism
1986
Corpus ID: 46148374
An association between host acetylator phenotype and idiopathic systemic lupus erythematosus (SLE) has been sought for over a…
Expand
1971
1971
The Rare Kell Blood Group Phenotype K° in a Japanese Family 1
H. Hamilton
,
Y. Nakahara
Vox Sanguinis
1971
Corpus ID: 12451721
Abstract. The rare Kell blood group phenotype K° was detected in a Japanese male when his red cells failed to agglutinate in…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE