Published in J Med Genet on August 01, 1978
The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer (1991) 1.94
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet (1982) 1.69
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease. Brain Res (2001) 1.00
Chromosomal radiosensitivity during the G2 cell-cycle period of skin fibroblasts from individuals with familial cancer. Proc Natl Acad Sci U S A (1985) 0.89
Nevoid Basal Cell Carcinoma Syndrome: A Long-Term Study in a Family. Craniomaxillofac Trauma Reconstr (2015) 0.75
Charcot Marie Tooth disease (CMT): historical perspectives and evolution. J Neurol (2014) 0.75
Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet (1974) 5.80
Genetic and environmental interactions. Cancer (1977) 1.59
Linkage analysis of the nevoid basal cell carcinoma syndrome. Ann Hum Genet (1968) 1.04
Familial jaw cysts in Charcot-Marie-Tooth disease. J Med Genet (1969) 0.95
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med (1991) 7.17
Chemotactic and anaphylatoxic fragment cleaved from the fifth component of guinea pig complement. Science (1968) 3.69
Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell (1992) 3.20
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) Am J Med Genet (1996) 3.17
A hemodynamic model of the pathogenesis of age-related macular degeneration. Am J Ophthalmol (1997) 3.11
Can the uptake of breast screening by Asian women be increased? A randomized controlled trial of a linkworker intervention. J Public Health Med (1994) 3.04
Managed care: devils, angels, and the truth in between. Health Prog (1999) 2.68
Cost effectiveness of shortening screening interval or extending age range of NHS breast screening programme: computer simulation study. BMJ (1998) 2.61
Experience with nontreatment of central serous choroidopathy. Arch Ophthalmol (1974) 2.51
Pigmentary epitheliopathy and erythema nodosum. Arch Ophthalmol (1971) 2.39
Detection and surveillance of colorectal cancer. JAMA (1989) 2.07
Adenovirus-mediated gene transfer to ciliated airway epithelia requires prolonged incubation time. J Virol (1996) 1.98
Case report. Metastatic pulmonary calcification in renal failure: a new HRCT pattern. Br J Radiol (2002) 1.95
The International Collaborative Study of Maternal Phenylketonuria: status report 1998. Eur J Pediatr (2000) 1.91
High frequency of BRCA1 185delAG mutation in ovarian cancer in Israel. National Israel Study of Ovarian Cancer. JAMA (1996) 1.90
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A (1990) 1.82
Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer (2007) 1.77
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet (2002) 1.77
What price survival? The future of Blue Cross and Blue Shield. JAMA (1998) 1.75
Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Med Genet (2004) 1.73
A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Nat Genet (1997) 1.71
The uninsured. From dilemma to crisis. JAMA (1991) 1.65
Carcinoid tumors frequently display genetic abnormalities involving chromosome 11. J Clin Endocrinol Metab (1996) 1.65
Slicing the pie thinner: hospitals and physicians square off over primary care services. Hospitals (1982) 1.64
The role of the atherosclerotic process in the pathogenesis of age-related macular degeneration. Am J Ophthalmol (2000) 1.63
Impaired learning in mice with abnormal short-lived plasticity. Curr Biol (1996) 1.63
Coping with calamity. How well does health care disaster planning work? JAMA (1994) 1.61
Prediction of early course of breast carcinoma by thymidine labeling. Cancer (1983) 1.61
Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study. BJU Int (2010) 1.60
Effect of BRCA mutations on the length of survival in epithelial ovarian tumors. J Clin Oncol (2002) 1.60
The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant non-skin cancers. Neurology (2012) 1.56
Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation (2001) 1.56
New evidence for neurotransmitter influences on brain development. Trends Neurosci (1997) 1.53
Relapse after cognitive behavior therapy of depression: potential implications for longer courses of treatment. Am J Psychiatry (1992) 1.53
ATM haplotypes and breast cancer risk in Jewish high-risk women. Br J Cancer (2006) 1.47
Topical lidocaine patch relieves postherpetic neuralgia more effectively than a vehicle topical patch: results of an enriched enrollment study. Pain (1999) 1.45
Mirk protein kinase is a mitogen-activated protein kinase substrate that mediates survival of colon cancer cells. Cancer Res (2000) 1.40
Hemoglobin-AGE: a circulating marker of advanced glycosylation. Science (1992) 1.40
A demanding issue. Healthc Forum J (1996) 1.39
Changing the ranks of medicine. Women MDs. Med World News (1988) 1.39
Chromosomal aberrations and gene expression profiles in non-small cell lung cancer. Lung Cancer (2007) 1.38
Ultra-low-dose naloxone suppresses opioid tolerance, dependence and associated changes in mu opioid receptor-G protein coupling and Gbetagamma signaling. Neuroscience (2005) 1.38
Stimulation of a dopamine D1 receptor enhances inositol phosphates formation in rat brain. J Pharmacol Exp Ther (1990) 1.37
The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum Mol Genet (1998) 1.37
Induction of SOS functions by alkaline intracellular pH in Escherichia coli. J Bacteriol (1986) 1.36
Digital indocyanine-green angiography in chorioretinal disorders. Ophthalmology (1992) 1.35
Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2004) 1.34
Public hospitals: doing what everyone wants done but few others wish to do. JAMA (1987) 1.34
The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer (2012) 1.34
Money isn't everything. Nonfinancial barriers to access. JAMA (1994) 1.34
Squamous cell carcinoma of the transverse duodenum. Gastrointest Endosc (1986) 1.33
Pre-oligodendrocytes from adult human CNS. J Neurosci (1992) 1.29
Evidence for a distinct D1-like dopamine receptor that couples to activation of phosphoinositide metabolism in brain. J Neurochem (1994) 1.28
Disciform degeneration of the macula. II. Pathogenesis. Arch Ophthalmol (1976) 1.26
Methyl methacrylate cranioplasty in children: long-term results. Pediatr Neurosurg (1997) 1.26
Hippocampus-dependent learning and memory is impaired in mice lacking the Ras-guanine-nucleotide releasing factor 1 (Ras-GRF1). Neuropharmacology (2001) 1.24
Sciatica caused by nerve root entrapment in the lateral recess: the superior facet syndrome. J Neurosurg (1972) 1.23
Potent cytodifferentiating agents related to hexamethylenebisacetamide. Proc Natl Acad Sci U S A (1991) 1.23
Limited form of Wegener granulomatosis. Eye involvement as a major sign. JAMA (1975) 1.23
In utero cocaine-induced dysfunction of dopamine D1 receptor signaling and abnormal differentiation of cerebral cortical neurons. J Neurosci (2000) 1.20
Natural history of disciform degeneration of the macula. Am J Ophthalmol (1974) 1.20
Evidence for the coupling of Gq protein to D1-like dopamine sites in rat striatum: possible role in dopamine-mediated inositol phosphate formation. Mol Pharmacol (1995) 1.16
Lumbar intervertebral disk herniation in teenage children: recognition and management of associated anomalies. Spine (Phila Pa 1976) (1984) 1.14
The retinal pigment epithelium. 3. Growth and development. Arch Ophthalmol (1968) 1.14
The retinal pigment epithelium. IV. The damaging effects of radiant energy. Arch Ophthalmol (1968) 1.12
Two different signal transduction pathways can be activated by transforming growth factor beta 1 in epithelial cells. J Biol Chem (1994) 1.12
No structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia. Analysis using denaturing gradient gel electrophoresis. JAMA (1994) 1.12
Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am J Med Genet (1986) 1.11
Inhibition of human colonic epithelial cell proliferation in vivo and in vitro by calcium. Cancer Res (1986) 1.11
The retinal pigment epithelium. I. Comparative histology. Arch Ophthalmol (1967) 1.09
Prenatal exposure to cocaine selectively reduces D1 dopamine receptor-mediated activation of striatal Gs proteins. J Pharmacol Exp Ther (1995) 1.09
Acute glomerulonephritis associated with varicella infection. Am J Med (1968) 1.08
Topical diclofenac patch relieves minor sports injury pain: results of a multicenter controlled clinical trial. J Pain Symptom Manage (2000) 1.08
Ibotenate lesions of the hippocampus impair spatial learning but not contextual fear conditioning in mice. Behav Brain Res (1999) 1.08
Family planning services for persons handicapped by mental retardation. Am J Public Health (1976) 1.07
Childhood abuse as a risk for partner abuse among women in methadone maintenance. Am J Drug Alcohol Abuse (1997) 1.07
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer. Hum Mutat (2000) 1.07
Neurological abnormalities in achondroplastic children. J Pediatr (1967) 1.06
Association of fragile X syndrome with autism. Lancet (1982) 1.06
Pre-endoscopic medication: parenteral diazepam used adjunctively. Gastrointest Endosc (1970) 1.06
Lumbar nerve root compression at the intervertebral foramina caused by arthritis of the posterior facets. J Neurosurg (1973) 1.06
Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1. Cancer Res (1991) 1.06
Update of the vascular model of AMD. Br J Ophthalmol (2004) 1.05
Public hospitals often face unmet capital needs, underfunding, uncompensated patient-care costs. JAMA (1987) 1.05
Autism is associated with the fragile-X syndrome. J Autism Dev Disord (1982) 1.05
The rate of the founder Jewish mutations in BRCA1 and BRCA2 in prostate cancer patients in Israel. Br J Cancer (2000) 1.05
The sagging safety net. Emergency departments on the brink of crisis. Hospitals (1992) 1.05
Stimulated D(1) dopamine receptors couple to multiple Galpha proteins in different brain regions. J Neurochem (2001) 1.04
Association of the C677T polymorphism in the MTHFR gene with breast and/or ovarian cancer risk in Jewish women. Eur J Cancer (2000) 1.04
The retinal pigment epithelium. II. Histologic changes associated with age. Arch Ophthalmol (1968) 1.03
Long-term prognosis after first Q-wave (transmural) or non-Q-wave (nontransmural) myocardial infarction: analysis of 593 patients. Am J Cardiol (1983) 1.03
Enhanced protein kinase C activity and translocation in bipolar affective disorder brains. Biol Psychiatry (1996) 1.03
Pediatric aerodigestive foreign body injuries are complications related to timeliness of diagnosis. Laryngoscope (1997) 1.02
Metastatic Peptostreptococcus intermedius endophthalmitis after a dental procedure. Am J Ophthalmol (1978) 1.02
Transforming growth factor beta 1 acts as an autocrine-negative growth regulator in colon enterocytic differentiation but not in goblet cell maturation. Cell Growth Differ (1990) 1.01
The rate of the 6174delT founder Jewish mutation in BRCA2 in patients with non-colonic gastrointestinal tract tumours in Israel. Br J Cancer (2001) 1.01
Systemic tuberculosis initially seen as an oral ulceration: report of case. J Oral Surg (1978) 1.01
The invasive adenylate cyclase of Bordetella pertussis. Intracellular localization and kinetics of penetration into various cells. Biochem J (1987) 1.01
Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae. Am J Med Genet (1997) 1.00
The invasive adenylate cyclase of Bordetella pertussis. Properties and penetration kinetics. Biochem J (1987) 1.00