Associate Professor, Pediatrics, University of Colorado School of Medicine

Medical Genetics

Gary Bellus is an expert in the field of Medical Genetics. He went to medical school at University of Colorado Denver School of Medicine. University of Colorado Denver School of Medicine is one of the top medical schools in the US. University of Colorado Denver School of Medicine has a rank of 35 in research and a 8 in primary care Gary A. Bellus is also published. He has 34 publications published. The lastest publication: "Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.'

Publications

---

• High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
• Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysynd...
• Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.
• Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.
• Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
• Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.
• Exclusion of candidate genes and loci for multiple lentigines syndrome.
• Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
• Immunosuppression and sebaceous tumors: a confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy.
• Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
• On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence.
• Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
• Genes, growth factors and acanthosis nigricans.
• What syndrome is this? Gingival fibromatosis-hypertrichosis syndrome.
• What syndrome is this? Ehlers-Danlos syndrome.
• Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
• Achondroplasia and nail-patella syndrome: the compound phenotype.
• The pleiotropic effects of fibroblast growth factor receptors in mammalian development.
• Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fib...
• A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
• Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.
• Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia.
• A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
• In organello mitochondrial protein and RNA synthesis systems from Saccharomyces cerevisiae.
• Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
• Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.
• Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
• First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia.
• Achondroplasia is defined by recurrent G380R mutations of FGFR3.
• Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
• A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
• Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
• Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

Schools

---

• University Of Colorado Denver School Of Medicine

• Washington UniversityBarnesJewish HospitalSt Louis Children S Hospital

• University Of Colorado University Hospital Program

Doctors Specialties

---

• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

---

Education

---

• University of Colorado
• University of Colorado Denver School of Medicine

Hospital

---

• Children's Hospital Colorado

Helpful Reviews

---

Give Anonymous Review

Similar Doctors

---

	Dr. Margaret B. Clarke, MD This Doctor is OpenDoctor Recommended.
	James D. Weisfeld-Adams, MB CHB
	Dr. Laura Pickler, MD This Doctor is OpenDoctor Recommended.
	Dr. David K. Manchester, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Parul P. Bhatt, MD This Doctor is OpenDoctor Recommended.
	Dr. Randall H. Lortscher, MD
	Dr. Tai M. Lockspeiser, MD
	Dr. Janet A. Thomas, MD This Doctor is OpenDoctor Recommended.
	Dr. Kourtney K. Santucci, MD This Doctor is OpenDoctor Recommended.
	Dr. Naomi J. Meeks, MD This Doctor is OpenDoctor Recommended.
	Dr. Amy L. Wudel, MD
	Dr. Deirdre Arnholz, MD This Doctor is OpenDoctor Recommended.
	Dr. Christina M. Chambers, MD This Doctor is OpenDoctor Recommended.
	Dr. Eva Sujansky, MD
	Dr. Margarita S. Saenz, MD This Doctor is OpenDoctor Recommended.
	Dr. Raymond J. Hill, PHD This Doctor is OpenDoctor Recommended.
	Dr. Austin A. Larson, MD
	Dr. Tatyana I. Datkhaeva, MD This Doctor is OpenDoctor Recommended.

---

Doctor Directory | TOS | twitter | FB | Angel | blog