BRENDAN LEE to Male
This is a "connection" page, showing publications BRENDAN LEE has written about Male.
Connection Strength
0.516
-
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect. J Clin Invest. 2024 Jun 17; 134(15).
Score: 0.039
-
Effects of Aspirin on Growth Factor Release From Freshly Isolated Leukocyte-Rich Platelet-Rich Plasma in Healthy Men: A Prospective Fixed-Sequence Controlled Laboratory Study. Am J Sports Med. 2019 04; 47(5):1223-1229.
Score: 0.027
-
Combinatorial Prg4 and Il-1ra Gene Therapy Protects Against Hyperalgesia and Cartilage Degeneration in Post-Traumatic Osteoarthritis. Hum Gene Ther. 2019 02; 30(2):225-235.
Score: 0.026
-
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet. 2018 08 02; 103(2):276-287.
Score: 0.026
-
Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. J Bone Miner Res. 2017 Jun; 32(6):1354-1367.
Score: 0.024
-
Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32.
Score: 0.021
-
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15; 24(22):6417-27.
Score: 0.021
-
The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations. Hum Mol Genet. 2014 Aug 01; 23(15):4035-42.
Score: 0.019
-
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. J Bone Miner Res. 2013 Nov; 28(11):2333-7.
Score: 0.019
-
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013 Jul; 28(7):1523-30.
Score: 0.018
-
Proteoglycan 4 expression protects against the development of osteoarthritis. Sci Transl Med. 2013 Mar 13; 5(176):176ra34.
Score: 0.018
-
Quantitative imaging of murine osteoarthritic cartilage by phase-contrast micro-computed tomography. Arthritis Rheum. 2013 Feb; 65(2):388-96.
Score: 0.018
-
Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012 Sep; 158A(9):2221-4.
Score: 0.017
-
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov; 33(11):1520-5.
Score: 0.017
-
Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? Mol Genet Metab. 2012 Jun; 106(2):237-40.
Score: 0.017
-
Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study. Mol Genet Metab. 2010; 100 Suppl 1:S84-7.
Score: 0.014
-
Heritability of plasma amino acid levels in different nutritional states. Mol Genet Metab. 2007 Feb; 90(2):217-20.
Score: 0.011
-
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874.
Score: 0.008
-
Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.008
-
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
Score: 0.007
-
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704.
Score: 0.007
-
Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results. Genet Med. 2020 01; 22(1):69-76.
Score: 0.007
-
Bmi1 Suppresses Adipogenesis in the Hematopoietic Stem Cell Niche. Stem Cell Reports. 2019 09 10; 13(3):545-558.
Score: 0.007
-
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
Score: 0.007
-
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet. 2019 01 03; 104(1):164-178.
Score: 0.007
-
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
Score: 0.007
-
Heterozygous WNT1 variant causing a variable bone phenotype. Am J Med Genet A. 2018 11; 176(11):2419-2424.
Score: 0.007
-
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 07 05; 103(1):154-162.
Score: 0.006
-
mTORC1 Signaling is a Critical Regulator of Postnatal Tendon Development. Sci Rep. 2017 12 07; 7(1):17175.
Score: 0.006
-
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823.
Score: 0.006
-
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.
Score: 0.006
-
P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA. J Biol Chem. 2017 03 03; 292(9):3877-3887.
Score: 0.006
-
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 Apr; 62(4):465-471.
Score: 0.006
-
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 Mar; 173(3):733-739.
Score: 0.006
-
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34.
Score: 0.005
-
Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. J Bone Miner Res. 2014 Aug; 29(8):1815-1822.
Score: 0.005
-
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 Nov; 99(11):E2451-6.
Score: 0.005
-
Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):131-5.
Score: 0.005
-
The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58.
Score: 0.005
-
ADAMTS-7 forms a positive feedback loop with TNF-a in the pathogenesis of osteoarthritis. Ann Rheum Dis. 2014 Aug; 73(8):1575-84.
Score: 0.005
-
Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain a-ketoacid dehydrogenase kinase. Proc Natl Acad Sci U S A. 2013 Jun 11; 110(24):9728-33.
Score: 0.005
-
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013 Jun 06; 92(6):996-1000.
Score: 0.005
-
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 09; 368(19):1809-16.
Score: 0.005
-
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10; 90(2):282-9.
Score: 0.004
-
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet. 2009 Sep; 17(9):1141-7.
Score: 0.003