Nussbaum, Robert L., 1950-
Nussbaum, Robert, L.
Robert L. Nussbaum American clinical geneticist
VIAF ID: 73196132 (Personal)
Permalink: http://viaf.org/viaf/73196132
Preferred Forms
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- 100 1 _ ‡a Nussbaum, Robert L
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- 100 1 _ ‡a Nussbaum, Robert L.
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- 100 1 _ ‡a Nussbaum, Robert L.
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- 100 1 _ ‡a Nussbaum, Robert L. ‡d 1950-
- 100 1 _ ‡a Nussbaum, Robert L. ‡d 1950-
- 100 1 _ ‡a Nussbaum, Robert L. ‡d 1950-
- 100 1 _ ‡a Nussbaum, Robert L., ‡d 1950-
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- 100 1 _ ‡a Nussbaum, Robert L., ‡d 1950-
- 100 1 _ ‡a Nussbaum, Robert, L.
- 100 0 _ ‡a Robert L. Nussbaum ‡c American clinical geneticist
4xx's: Alternate Name Forms (6)
Works
Title | Sources |
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Acyl-CoA synthetase activity links wild-type but not mutant alpha-synuclein to brain arachidonate metabolism | |
Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding | |
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease | |
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer | |
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers | |
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research | |
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers | |
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. | |
ClinGen--the Clinical Genome Resource | |
Dent Disease with mutations in OCRL1 | |
The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis | |
Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein | |
Early embryonic lethality in mice deficient in the p110beta catalytic subunit of PI 3-kinase | |
Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. | |
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus | |
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer | |
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 | |
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance | |
Holocranohistochemistry enables the visualization of α-synuclein expression in the murine olfactory system and discovery of its systemic anti-microbial effects | |
Identification of six new susceptibility loci for invasive epithelial ovarian cancer | |
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer | |
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women | |
Mining yeast in silico unearths a golden nugget for mitochondrial biology | |
Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein | |
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy | |
Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations. | |
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. | |
Off. ABMS dis. of bd. cert. med. spec., 2001, c2000: | |
Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration | |
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) | |
Proteomics analysis identifies phosphorylation-dependent alpha-synuclein protein interactions | |
Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene | |
Renal cell carcinoma in tuberous sclerosis complex | |
Research ethics recommendations for whole-genome research: consensus statement | |
Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)" | |
Shared heritability and functional enrichment across six solid cancers | |
Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome | |
Structure and dynamics of micelle-bound human alpha-synuclein | |
Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein | |
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes | |
Thompson & Thompson - Klinická genetika | |
Thompson and Thompson genetics in medicine | |
Tonpuson & tonpuson iden igaku | |
Transgenic mice expressing S129 phosphorylation mutations in α-synuclein | |
Uihak yujeonhak | |
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum | |
Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice | |
What is special about the "human" in "human genetics"? | |
X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice | |
의학유전학 | |
トンプソン&トンプソン遺伝医学 |