Published in J Med Genet on September 01, 1969
Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree. J Med Genet (1979) 1.65
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. Am J Hum Genet (1994) 1.24
Camptodactyly: occurrence in two new genetic syndromes and its relationship to other syndromes. J Med Genet (1972) 1.06
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet (2014) 1.03
A new camptodactyly syndrome. J Med Genet (1982) 0.75
Multiple congenital anomaly caused by an extra autosome. Lancet (1960) 5.76
A new trisomic syndrome. Lancet (1960) 3.52
Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr (1950) 2.84
FAMILY STUDIES AND THE CAUSE OF CONGENITAL CLUB FOOT. TALIPES EQUINOVARUS, TALIPES CALCANEO-VALGUS AND METATARSUS VARUS. J Bone Joint Surg Br (1964) 2.73
The excretion of amino acids by the human; a quantitative study with ion-exchange chromatography. Biochem J (1956) 2.28
Patau's, Edwards' and Cri du Chat syndromes: a tabulated summary of current findings. Dev Med Child Neurol (1967) 1.30
KINDRED SHOWING CONGENITAL ABSENCE OF THE DERMAL RIDGES (FINGERPRINTS) AND ASSOCIATED ANOMALIES. J Pediatr (1964) 1.24
CAMPTODACTYLY. Am J Roentgenol Radium Ther Nucl Med (1964) 1.19
FOCAL DERMAL HYPOPLASIA SYNDROME. Acta Derm Venereol (1963) 1.19
A HEREDITARY SYNDROME: "DYSPLASIA OCULODENTODIGITALIS. Arch Ophthalmol (1964) 1.18
Heritable dysmorphic syndrome with normal intelligence. J Pediatr (1967) 1.13
FAMILIAL STREBLODACTLY WITH AMINO-ACIDURIA. Br Med J (1963) 1.11
Hereditary contractures of the fingers (camptodactyly). J Med Genet (1966) 1.05
Oral-facial-digital syndrome. Arch Dis Child (1967) 1.03
Polydactyly of the Second Metatarsal with Associated Defects of the Feet: A New, Simply Inherited Skeletal Deformity. Am J Hum Genet (1963) 1.02
Congenital fistulas of the lower lip. Associations with cleft lip-palate and anomalies of the extremities. Arch Dermatol (1966) 0.96
Urinary excretion of free amino acids in normal adult men and women. Clin Chim Acta (1959) 0.96
Familial camptodactyly with taurinuria. J Med Genet (1966) 0.94
[ON THE CLINICAL ASPECTS OF THE NIELSON SYNDROME]. Dermatol Wochenschr (1964) 0.90
NOTES ON CAMPYLODACTYLIA. II. Acta Chir Plast (1964) 0.85
Marfan's syndrome: description of a family. Am J Med (1957) 0.84
A Simple Method for the Silver Impregnation of Reticulum. Am J Pathol (1936) 9.76
Zymohexase: With an Addendum by E. C. Bate-Smith. Biochem J (1940) 6.34
Conformations of immunoglobulin hypervariable regions. Nature (1990) 5.31
The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) (1985) 4.64
International Consensus Statement on Testing and Reporting of Antineutrophil Cytoplasmic Antibodies (ANCA) Am J Clin Pathol (1999) 3.31
Regulation of tension in the skinned crayfish muscle fiber. I. Contraction and relaxation in the absence of Ca (pCa is greater than 9). J Gen Physiol (1971) 3.00
Randomized controlled comparison of epidural bupivacaine versus pethidine for analgesia in labour. Br J Anaesth (2000) 2.99
A model of the kinetics of insulin in man. J Clin Invest (1974) 2.97
Effects of arterial versus venous sampling on analysis of glucose kinetics in man. J Appl Physiol (1976) 2.93
Plate tectonics of the Red Sea and East Africa. Nature (1970) 2.64
Pharmacokinetics and metabolism of budesonide, a selective glucocorticoid. Eur J Respir Dis Suppl (1982) 2.59
Methods to improve diagnostic accuracy in a community mental health setting. Am J Psychiatry (2000) 2.52
The effect of diameter of largest residual disease on survival after primary cytoreductive surgery in patients with suboptimal residual epithelial ovarian carcinoma. Am J Obstet Gynecol (1994) 2.50
Ipratropium bromide in acute asthma. Br Med J (Clin Res Ed) (1981) 2.47
Reprint request reflexes. Nature (1970) 2.36
Intraoral and pulmonary tuberculosis following dental treatment. Lancet (1982) 2.15
Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Mayo Clin Proc (1986) 2.13
Ankylosing spondylitis and lung fibrosis. Q J Med (1972) 2.09
Insulin control of glucose metabolism in man: a new kinetic analysis. J Clin Invest (1975) 2.09
The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma. N Engl J Med (1977) 2.07
Role of adenine and guanine nucleotides in the activity and response of adenylate cyclase systems to hormones: evidence for multisite transition states. Adv Cyclic Nucleotide Res (1975) 2.06
Human peripheral blood contains two distinct lineages of dendritic cells. Eur J Immunol (1999) 2.01
Acute transverse myelitis: incidence and etiologic considerations. Neurology (1981) 1.84
A review of immunofluorescent patterns associated with antineutrophil cytoplasmic antibodies (ANCA) and their differentiation from other antibodies. J Clin Pathol (1998) 1.76
Retrospective maternal mortality case ascertainment in West Virginia, 1985 to 1989. Am J Obstet Gynecol (1992) 1.71
TRAIL-expressing mesenchymal stem cells kill the putative cancer stem cell population. Br J Cancer (2010) 1.65
Ileal pouch-anal anastomosis: comparison of results in familial adenomatous polyposis and chronic ulcerative colitis. Ann Surg (1989) 1.64
Antineutrophil cytoplasmic antibodies and associated diseases: a review of the clinical and laboratory features. Kidney Int (2000) 1.64
Group B streptococcal infection in a maternity unit. Br J Obstet Gynaecol (1978) 1.63
Birth size and arterial compliance in young adults. Lancet (2000) 1.63
Familial prevalence of chronic obstructive pulmonary disease in a matched pair study. Am J Med (1977) 1.63
The orphan seven-transmembrane receptor apj supports the entry of primary T-cell-line-tropic and dualtropic human immunodeficiency virus type 1. J Virol (1998) 1.63
Sequential embryo scoring as a predictor of aneuploidy in poor-prognosis patients. Reprod Biomed Online (2010) 1.60
Multicompartmental analysis of cholesterol metabolism in man. Characterization of the hepatic bile acid and biliary cholesterol precursor sites. J Clin Invest (1978) 1.59
Blood Coagulation and Fibrinolysis in Relation to Coronary Heart Disease. Br Med J (1960) 1.57
Very low density lipoprotein triglyceride transport in type IV hyperlipoproteinemia and the effects of carbohydrate-rich diets. J Clin Invest (1970) 1.56
Glycerol-specific revertants of a phosphoenolpyruvate phosphotransferase mutant: suppression by the desensitization of glycerol kinase to feedback inhibition. J Bacteriol (1971) 1.54
The chronic sequelae of non-A, non-B hepatitis. Ann Intern Med (1979) 1.54
High density lipoprotein metabolism in man. J Clin Invest (1977) 1.53
Metabolsim of apoB and apoC lipoproteins in man: kinetic studies in normal and hyperlipoproteininemic subjects. J Lipid Res (1978) 1.53
Strong constraints on the rare decays B(s)(0) → μ+ μ- and B0 → μ+ μ-. Phys Rev Lett (2012) 1.50
Cloning and characterization of a novel T cell activation gene. J Immunol (1987) 1.50
First observation of the decays B(0) → D(+)K(-)π(+)π(-) and B(-) → D(0)K(-)π(+)π(-). Phys Rev Lett (2012) 1.50
Active management of labor associated with a decrease in the cesarean section rate in nulliparas. Obstet Gynecol (1988) 1.48
What is a normal CA125 level? Gynecol Oncol (1994) 1.48
The effect of phenobarbitone-induction on vitamin D metabolism. Clin Sci (1972) 1.46
Suppression of a pleiotropic mutant affecting glycerol dissimilation. Biochem Biophys Res Commun (1970) 1.46
Investigations into the mechanism by which sulfated polysaccharides inhibit HIV infection in vitro. AIDS Res Hum Retroviruses (1992) 1.45
Determination of the X(3872) meson quantum numbers. Phys Rev Lett (2013) 1.42
Ejection fraction revisited. Anesthesiology (1991) 1.42
Mesenteric fibromatosis complicating familial adenomatous polyposis: predisposing factors and results of treatment. Int J Colorectal Dis (1989) 1.38
Pulmonary aspergillomas treated with corticosteroids. Thorax (1972) 1.37
Single-blind Mazzotti test for onchocerciasis. Lancet (1992) 1.37
Study of calcium absorption in man: a kinetic analysis and physiologic model. J Clin Invest (1969) 1.36
Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC. Proc Natl Acad Sci U S A (2002) 1.36
Fibrosing alveolitis and treatment with sulphasalazine. Gut (1974) 1.35
The community integration measure: development and preliminary validation. Arch Phys Med Rehabil (2001) 1.33
Squamous cell cancers contain a side population of stem-like cells that are made chemosensitive by ABC transporter blockade. Br J Cancer (2008) 1.33
Osteoporosis and coronary atherosclerosis in asymptomatic postmenopausal women. Calcif Tissue Int (1998) 1.33
Lung fibrosis and cavitation mimicking tuberculosis. Tubercle (1970) 1.32
Multicompartmental analysis of calcium kinetics in normal adult males. J Clin Invest (1967) 1.31
Amifostine pretreatment for protection against cyclophosphamide-induced and cisplatin-induced toxicities: results of a randomized control trial in patients with advanced ovarian cancer. J Clin Oncol (1996) 1.31
PCB and organochlorine pesticides in Canadian human milk--1992. Chemosphere (1995) 1.31
Transport of very low density lipoprotein triglycerides in varying degrees of obesity and hypertriglyceridemia. J Clin Invest (1979) 1.29
Is your enema really necessary? Br Med J (Clin Res Ed) (1981) 1.28
Scrapie in the central nervous system: neuroanatomical spread of infection and Sinc control of pathogenesis. J Gen Virol (1992) 1.28
Occupational asthma due to methyl methacrylate and cyanoacrylates. Thorax (1985) 1.27
The removal of organic phosphates from hemoglobin. Arch Biochem Biophys (1971) 1.27
ER-Tracker dye and BODIPY-brefeldin A differentiate the endoplasmic reticulum and golgi bodies from the tubular-vacuole system in living hyphae of Pisolithus tinctorius. J Microsc (2000) 1.23
Fast neutron treatment for squamous cell carcinoma. BMJ (1991) 1.22
Lipoid proteinosis in an inbred Namaqualand community. Lancet (1969) 1.22
Lignan formation in man--microbial involvement and possible roles in relation to cancer. Lancet (1981) 1.22
Kinetic studies of plasma free fatty acid and triglyceride metabolism in man. J Clin Invest (1969) 1.22
Development of a novel flow cytometric cell-mediated cytotoxicity assay using the fluorophores PKH-26 and TO-PRO-3 iodide. J Immunol Methods (2001) 1.22
Validity and community utility of the Canadian Occupational Performance Measure. Can J Occup Ther (2000) 1.21
First observation of CP violation in the decays of B(s)0 mesons. Phys Rev Lett (2013) 1.21
Vitamin D deficiency: a concern in pregnant Asian women. Br J Nutr (1995) 1.21
Usefulness of chromosome examination in the diagnosis of malignant pleural effusions. N Engl J Med (1976) 1.20
Nomenclature for tracer kinetics. Int J Appl Radiat Isot (1968) 1.20
Value of preoperative CA 125 level in the management of uterine cancer and prediction of clinical outcome. Obstet Gynecol (1997) 1.19
Management of female genital mutilation: the Northwick Park Hospital experience. Br J Obstet Gynaecol (1995) 1.18
Radiological aspects of intra-uterine blood transfusion. Br J Radiol (1967) 1.18
Perineal muscle function after childbirth. Lancet (1985) 1.15
Community education for stroke awareness: An efficacy study. Stroke (1999) 1.15
Anti-neutrophil cytoplasm antibodies in rheumatoid arthritis. Clin Exp Immunol (1991) 1.13
Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome Type IV. Case report. J Neurosurg (1991) 1.12
Clinical spectrum of Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc (1979) 1.12
Antimicrobial tolerance in group G streptococci. Lancet (1980) 1.12
Inhibitory effects of activin on the growth and morpholgenesis of primary and transformed mammary epithelial cells. Cancer Res (1996) 1.12
Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas. Mayo Clin Proc (1987) 1.11
Family studies in retinoblastoma. Birth Defects Orig Artic Ser (1974) 1.11
Familial atrial septal defect with prolonged atrioventricular conduction. A syndrome showing the autosomal dominant pattern of inheritance. Circulation (1970) 1.10
Workshop on inborn errors of metabolism. Prog Clin Biol Res (1982) 1.09
Structural aspects of Congo red as an inhibitor of protease-resistant prion protein formation. J Neurochem (1998) 1.09
Adenocarcinoma of the cervix associated with human papillomavirus. Cancer (1988) 1.09
Rheumatoid pneumoconiosis. A clinical study. Am Rev Respir Dis (1968) 1.08
A postulate to aid in model building. J Theor Biol (1963) 1.08
Pregnancies in women with hyperprolactinaemia: clinical course and obstetric complications of 41 pregnancies in 27 women. Br J Obstet Gynaecol (1979) 1.08
The NG2 chondroitin sulfate proteoglycan: role in malignant progression of human brain tumours. Int J Dev Neurosci (1999) 1.07
Experimental measles: The lymphoid tissues of animals inoculated with the virus of human measles. Am J Pathol (1941) 1.07