B. Gelb

发表

Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane.

K. Worley, J. Towbin, E. McCabe, 1991, Biochemical medicine and metabolic biology.

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

H. Ferguson, B. Gelb, L. Edelmann, 2009, Clinical genetics.

Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.

B. Gelb, R. Desnick, A. Verloes, 1998, American journal of human genetics.

Genetic association analysis of 269 rare diseases reveals novel aetiologies

I. Yamanaka, S. Riazuddin, S. Mansour, 2022, medRxiv.

Characterization of human genomic yeast artificial chromosome inserts containing hexokinase 1 coding information on chromosome 10.

A. C. Chinault, K. Worley, E. McCabe, 1992, Biochemical medicine and metabolic biology.

Developmental expression of hexokinase 1 in the rat.

E. McCabe, L. Griffin, V. Adams, 1992, Biochimica et biophysica acta.

Protein kinase activity of rat brain hexokinase.

E. McCabe, L. Griffin, V. Adams, 1991, Biochemical and biophysical research communications.

Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene.

Jian Zhang, J. Martignetti, J. Zhang, 1996, Biochemical and molecular medicine.

Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion.

B. Gelb, R. Desnick, M. Shevell, 1995, American journal of medical genetics.

Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.

J. Willner, J. Zhang, B. Gelb, 1999, American journal of medical genetics.

Structure and chromosomal assignment of the human cathepsin K gene.

S. Weremowicz, C. Morton, R. Desnick, 1997, Genomics.

Targeting of hexokinase 1 to liver and hepatoma mitochondria.

E. McCabe, S. Jones, L. Griffin, 1992, Proceedings of the National Academy of Sciences of the United States of America.

PTPN11 (protein tyrosine phosphatase, non-receptor type, 11)

M. Tartaglia, B. Gelb, 2011 .

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio–facio–cutaneous and Costello syndromes

M. Tartaglia, G. Zampino, K. Rauen, 2003, Clinical genetics.

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

B. Gelb, M. Tartaglia, G. Zampino, 2010, Molecular Syndromology.

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22.

J. Martignetti, R. Desnick, K. Norton, 1999, American journal of human genetics.

PTPN11 mutations play a minor role in isolated congenital heart disease

B. Gelb, C. Maslen, A. Hager, 2005, American journal of medical genetics. Part A.

Analysis of formalin-fixed and frozen myocardial autopsy samples for viral genome in childhood myocarditis and dilated cardiomyopathy with endocardial fibroelastosis using polymerase chain reaction (PCR).

J. Towbin, L. Griffin, S. Webber, 1995, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Mammalian hexokinase 1: evolutionary conservation and structure to function analysis.

D. Davison, D. Wheeler, E. McCabe, 1991, Genomics.

Genomic structure of and a cardiac promoter for the mouse carnitine palmitoyltransferase II gene.

B. Gelb, 1993, Genomics.

Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization.

K. Hirschhorn, R. Desnick, B. Levy, 1997, Cytogenetics and cell genetics.

Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor a genes on 1q21.

J. Zhang, R. Desnick, B. Gelb, 1997, Genomics.