Research Topics
Genomes and Genes | Brian P BrooksSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistancePenelope P Feuillan
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
J Clin Endocrinol Metab 96:E528-35. 2011..To study the pathophysiology of obesity in BBS, we compared patients with BBS and body mass index Z-score (BMI-Z)-matched controls...
Infantile spasms as a cause of acquired perinatal visual lossBrian P Brooks
Department of Ophthalmology, Kellogg Eye Center, University of Michigan, Ann Arbor, USA
J AAPOS 6:385-8. 2002..Visual abnormalities have been described in patients with infantile spasms (IS), an epileptic syndrome of early childhood...- Ocular manifestations of trichothiodystrophyBrian P Brooks
National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Ophthalmology 118:2335-42. 2011..Many TTD patients have a defect in known DNA repair genes. This report systematically evaluates the ocular manifestations of the largest-to-date cohort of TTD patients and xeroderma pigmentosum (XP)/TTD patients... - Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case reportBrian P Brooks
National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
BMC Ophthalmol 4:7. 2004..Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13... - A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndromeBrian P Brooks
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
Ophthalmic Genet 25:57-62. 2004..To determine the underlying genetic cause of Axenfeld-Rieger syndrome (ARS) in a three-generation family... - Analysis of ocular hypopigmentation in Rab38cht/cht miceBrian P Brooks
National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Invest Ophthalmol Vis Sci 48:3905-13. 2007..To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome... - Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literatureBrian P Brooks
National Eye Institute, USA
BMC Med Genet 7:2. 2006..Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments... - Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and humanRamakrishna P Alur
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
PLoS Genet 6:e1000870. 2010..T74A) in vivo, likely by reducing protein stability. These results suggest that hypomorphic alleles of PAX2/Pax2 can lead to significant disease in humans and mice... - A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrumDaniel E Pineda-Alvarez
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20814, USA
Am J Med Genet A 155:2713-20. 2011..These findings contribute to the understanding of the phenotypic variability of the HPE spectrum, and highlight findings in one medically important but often incompletely investigated system... - Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRLLorenzo L Nichols
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Hum Mutat 31:E1472-83. 2010..Such patients would therefore not likely benefit from a simple, gene-replacement strategy for their disease... - Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinismIghovie F Onojafe
Unit on Pediatric, Developmental, and Genetic Eye Disease, National Eye Institute, NIH, Bethesda, Maryland 20892, USA
J Clin Invest 121:3914-23. 2011..These results suggest that the use of nitisinone in OCA-1B patients could improve their pigmentation and potentially ameliorate vision loss... - Nonlinear gene cluster analysis with labeling for microarray gene expression data in organ developmentMartin Ehler
National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Medical Biophysics, Bethesda MD 20892, USA
BMC Proc 5:S3. 2011..5 to 12.5) of optic fissure closure... - Mutation of the FOXC2 gene in familial distichiasisBrian P Brooks
Department of Ophthalmology, University of Michigan, Ann Arbor, MI, USA
J AAPOS 7:354-7. 2003..Ophthalmologists should be aware that LD may present as distichiasis alone and counsel and refer their patients appropriately... - Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literatureHema L Ramkumar
Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
Surv Ophthalmol 56:348-61. 2011..These cases illustrate the role of DNA repair in protection of the eyes from UV damage and neurodegeneration of the retina... - Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily S Doherty
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Am J Med Genet A 143:3204-15. 2007..01). Based on our findings, we propose that the clinical management should include audiometric and developmental assessment in addition to standard clinical care and appropriate genetic counseling... - Uveal coloboma: clinical and basic science updateLan Chang
National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Curr Opin Ophthalmol 17:447-70. 2006..Coloboma is a complex disorder with a variable prognosis and requires regular examination to optimize visual acuity and to monitor for potential complications... - Optic nerve axon number in mouse is regulated by PAX2Ramakrishna P Alur
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
J AAPOS 12:117-21. 2008.... - RedundancyMiner: De-replication of redundant GO categories in microarray and proteomics analysisBarry R Zeeberg
Laboratory of Molecular Pharmacology, Center for Cancer Research, National Cancer Institute, NIH, Room 5068, Building 37, 37 Convent Drive, Bethesda, MD 20892, USA
BMC Bioinformatics 12:52. 2011..The redundancy might typically inflate the report of significant categories by a factor of three-fold, create an illusion of an overly long list of significant categories, and obscure the relevant biological interpretation... - Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closureJacob D Brown
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 106:1462-7. 2009..We also identify misregulation of pax2 in the developing eye of morphant fish, suggesting that Nlz1 and Nlz2 act upstream of the Pax2 pathway in directing proper closure of the optic fissure... - High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnanciesDeborah Tamura
Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA
Prenat Diagn 31:1046-53. 2011..To identify the frequency of pregnancy and neonatal complications in pregnancies carrying fetuses affected with trichothiodystrophy (TTD)... - Optic neuropathies in inherited metabolic disordersMarjan Huizing
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Pediatr Endocrinol Rev 3:97-103. 2005..Here we review the substantial group of metabolic disorders that include optic neuropathies which may aid ophthalmologist, geneticist, neurologist, endocrinologist and other involved specialists in the diagnosis process... - Phenotype and course of Hutchinson-Gilford progeria syndromeMelissa A Merideth
National Human Genome Research Institute, Intramural Office of Rare Disease, National Institutes of Health, Bethesda, MD 20892 1851, USA
N Engl J Med 358:592-604. 2008.... - Increased corneal thickness in patients with ocular colobomaJohnny Tang
Ophthalmic Genetics and Visual Function Branch, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892-1852, USA
J AAPOS 10:175-7. 2006 
Absent optic chiasm presenting with horizontal nystagmusDaniel J Salchow
Department of Ophthalmology, Yale University School of Medicine, New Haven, CT 06510, USA
J Pediatr Ophthalmol Strabismus 47:187-91. 2010..Systemic abnormalities in this patient included cleft lip, preauricular skin tags, broad thumbs, and an anteriorly positioned anus, suggestive of Townes-Brock syndrome...- Optic atrophies in metabolic disordersMarjan Huizing
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Mol Genet Metab 86:51-60. 2005..For many metabolic disorders, molecular testing is available... - Molecular diagnosis and genetic counseling in ophthalmologyDelphine Blain
National Eye Institute, National Institutes of Health, Department of Health and Human Services, 10 Center Drive, Bethesda, MD 20892, USA
Arch Ophthalmol 125:196-203. 2007 - Acute postnatal cataract formation in Smith-Lemli-Opitz syndromeHalima Goodwin
Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, Maryland 20892, USA
Am J Med Genet A 146:208-11. 2008..These findings are suggestive an inflammatory component that is consistent with impaired competence of the lens capsule... - Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain proteinHerbert M Espinoza
Department of Biological Science, The University of Tulsa, Tulsa, Oklahoma 74104 3189, USA
Biochemistry 44:3942-54. 2005..Overall, phosphorylation imparts another level of regulation to the activity of the PITX2 homeodomain protein during development... - FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndromeBenjamin M Kriederman
University of Arizona, Department of Surgery, Tucson, Arizona, USA
Hum Mol Genet 12:1179-85. 2003....