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Nancy Braverman

Research Profile

Disorders

Chemicals & Drugs

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Physiology

Mutation

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Publications

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Sebastien Levesque; Pascale Marquis; Charles Morin; Steven J Steinberg; Josee Villeneuve; Wing Yan Yik; Ken Dewar; Simon-Pierre Guay; Joseph G Hacia; Sarn Jiralerspong; Luigi Bouchard; Nancy Braverman
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
Gretchen Oswald; Gerald V Raymond; W Christopher Golden; CATHLEEN LAWSON; Nancy Braverman
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.
Rui Zhang; Li Chen; Sarn Jiralerspong; Ann Snowden; Steven J Steinberg; Nancy Braverman
Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.

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All Publications

2012: Sebastien Levesque; Pascale Marquis; Charles Morin; Steven J Steinberg; Josee Villeneuve; Wing Yan Yik; Ken Dewar; Simon-Pierre Guay; Joseph G Hacia; Sarn Jiralerspong; Luigi Bouchard; Nancy Braverman
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
BMC medical genetics 2012;13():72.
2011: Gretchen Oswald; Gerald V Raymond; W Christopher Golden; CATHLEEN LAWSON; Nancy Braverman
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.
American journal of medical genetics. Part A 2011;155A(12):3160-3.
2010: Rui Zhang; Li Chen; Sarn Jiralerspong; Ann Snowden; Steven J Steinberg; Nancy Braverman
Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(12):5569-74.
2009: Steven J Steinberg; A Snowden; Nancy Braverman; L Chen; Paul A Watkins; P T Clayton; K D R Setchell; James Heubi; Gerald V Raymond; Ann B Moser; Hugo W Moser
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
Journal of inherited metabolic disease 2009;32(1):109-19.
2008: Veronica Mardo; Elizabeth E Squibb; Nancy Braverman; Julie E Hoover-Fong; Claude J Migeon; Denise A S Batista; George H Thomas
Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.
American journal of medical genetics. Part A 2008;146A(17):2293-7.
2006: Steven J Steinberg; Gabriele Dodt; Gerald V Raymond; Nancy Braverman; Ann B Moser; Hugo W Moser
Peroxisome biogenesis disorders.
Biochimica et biophysica acta 2006;1763(12):1733-48.
2006: Ronald D Cohn; Erik Eklund; Amanda L Bergner; James F Casella; S Lee Woods; Janyne E Althaus; Karin J Blakemore; Harold E Fox; Julie E Hoover-Fong; Ada Hamosh; Nancy Braverman; Hudson H Freeze; Simeon Boyd
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.
Pediatrics 2006;118(2):e514-21.
2006: L Patricia Franco; Jada Anderson; James Okoh; Martin G Pomper; Nancy Braverman; Peter B Barker
Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels.
Journal of magnetic resonance imaging : JMRI 2006;23(3):404-7.
2005: Sakkubai Naidu; Genila Bibat; Doris D M Lin; Peter C Burger; Peter B Barker; Sérgio Rosemberg; Nancy Braverman; Hugo Arroyo; Michael Dowling; Ada Hamosh; Virginia E Kimonis; Carol Blank; Agata Fiumara; Sergio Facchini; Bhim Singhal; Hugo Moser; Richard I Kelley; Salvatore DiMauro
Progressive cavitating leukoencephalopathy: a novel childhood disease.
Annals of neurology 2005;58(6):929-38.
2005: Nancy Braverman; S Harvey Mudd; Peter B Barker; Martin G Pomper
Characteristic MR imaging changes in severe hypermethioninemic states.
AJNR. American journal of neuroradiology 2005;26(10):2705-6.
2005: Sheila Unger; David A Paul; Michelle C Nino; Charles P McKay; Stephen Miller; Etienne Sochett; Nancy Braverman; Joe T R Clarke; David E C Cole; andrea superti-furga
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
European journal of pediatrics 2005;164(4):236-43.
2004: Matthew E Wolpoe; Nancy Braverman; Sandra Y Lin
Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata.
Archives of otolaryngology--head & neck surgery 2004;130(12):1423-6.
2004: Steven J Steinberg; Li Chen; Liumei Wei; Ann B Moser; Hugo Moser; Garry R Cutting; Nancy Braverman
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Molecular genetics and metabolism 2004;83(3):252-63.
2004: Lidia M Nagae-Poetscher; Michael McMahon; Nancy Braverman; William T Lawrie; S. Ali Fatemi; Mahaveer Degaonkar; ALENA HORSKA; Martin G Pomper; Vadappuram P Chacko; Peter B Barker
Metabolites in ventricular cerebrospinal fluid detected by proton magnetic resonance spectroscopic imaging.
Journal of magnetic resonance imaging : JMRI 2004;20(3):496-500.
2003: S Harvey Mudd; Nancy Braverman; Martin G Pomper; Kamer Tezcan; Jonathan Kronick; Parul Jayakar; Cheryl Garganta; Mary G Ampola; Harvey L Levy; Shawn E McCandless; Hobart Wiltse; Sally P Stabler; Robert H Allen; Conrad Wagner; Marlene W Borschel
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
Molecular genetics and metabolism 2003;79(1):6-16.
2003: Zuhair N Al-Hassnan; Simeon Boyd; V Praphanphoj; Ada Hamosh; Nancy Braverman; George H Thomas; Michael T Geraghty
The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia.
Journal of inherited metabolic disease 2003;26(1):89-91.
2002: Nancy Braverman; Li Chen; Paul Lin; Cassandra Obie; Gary Steel; Pamela Douglas; Pranesh K Chakraborty; Joe T R Clarke; Avihu Boneh; Ann B Moser; Hugo Moser; David Valle
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Human mutation 2002;20(4):284-97.
2002: Reza Yaghmai; Amir H Kashani; Michael T Geraghty; Jay Okoh; Martin G Pomper; Albert Tangerman; Conrad Wagner; Sally P Stabler; Robert H Allen; S Harvey Mudd; Nancy Braverman
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
American journal of medical genetics 2002;108(1):57-63.
2000: DK Grange; Lisa Kratz; Nancy Braverman; Richard I Kelley
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.
American journal of medical genetics 2000;90(4):328-35.
2000: Nancy Braverman; Gary Steel; Paul Lin; Ann B Moser; Hugo Moser; David Valle
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
Genomics 2000;63(2):181-92.
1999: Nancy Braverman; Paul Lin; Fabian F Moebius; Cassandra Obie; Ann B Moser; Hartmut Glossmann; W R Wilcox; D L Rimoin; M Smith; Lisa Kratz; Richard I Kelley; David Valle
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
Nature genetics 1999;22(3):291-4.
1998: Nancy Braverman; Gabriele Dodt; Stephen J Gould; David Valle
An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.
Human molecular genetics 1998;7(8):1195-205.
1997: Nancy Braverman; Gary Steel; Cassandra Obie; Ann B Moser; Hugo Moser; Stephen J Gould; David Valle
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
Nature genetics 1997;15(4):369-76.
1996: Gabriele Dodt; Nancy Braverman; David Valle; Stephen J Gould
From expressed sequence tags to peroxisome biogenesis disorder genes.
Annals of the New York Academy of Sciences 1996;804():516-23.
1996: T Yahraus; Nancy Braverman; Gabriele Dodt; J E Kalish; James C Morrell; Hugo W Moser; David Valle; Stephen J Gould
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
The EMBO journal 1996;15(12):2914-23.
1995: Gabriele Dodt; Nancy Braverman; C Wong; Ann B Moser; Hugo W Moser; Paul A Watkins; David Valle; Stephen J Gould
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
Nature genetics 1995;9(2):115-25.
1995: Nancy Braverman; Gabriele Dodt; Stephen J Gould; David Valle
Disorders of peroxisome biogenesis.
Human molecular genetics 1995;4 Spec No():1791-8.