Thanatophoric dwarfism.

PubWeight™: 1.06‹?› | Rank: Top 15%

🔗 View Article (PMC 1013027)

Published in J Med Genet on September 01, 1973

Authors

K Shah, R Astley, A H Cameron

Articles by these authors

The nature of the principal type 1 interferon-producing cells in human blood. Science (1999) 10.90

Isolation of virus related to SV40 from patients with progressive multifocal leukoencephalopathy. N Engl J Med (1972) 3.09

Cot deaths in Birmingham 1958-61. Med Sci Law (1965) 2.81

Gain of chromosome 3q defines the transition from severe dysplasia to invasive carcinoma of the uterine cervix. Proc Natl Acad Sci U S A (1996) 2.81

Prevalence, incidence, and type-specific persistence of human papillomavirus in human immunodeficiency virus (HIV)-positive and HIV-negative women. J Infect Dis (2001) 2.51

Capsazepine: a competitive antagonist of the sensory neurone excitant capsaicin. Br J Pharmacol (1992) 2.50

Immunologic relatedness of papillomaviruses from different species. J Natl Cancer Inst (1980) 2.44

Design of allele-specific inhibitors to probe protein kinase signaling. Curr Biol (1998) 2.36

Imaging findings of extraventricular neurocytoma: report of 3 cases and review of the literature. AJNR Am J Neuroradiol (2008) 2.30

Laparoscopic kidney transplantation: an initial experience. Am J Transplant (2011) 2.24

ERK phosphorylation drives cytoplasmic accumulation of hnRNP-K and inhibition of mRNA translation. Nat Cell Biol (2001) 2.14

Arterial embolization is a rapid and effective technique for controlling pelvic fracture hemorrhage. J Trauma (1997) 2.12

Advanced-stage cervical carcinomas are defined by a recurrent pattern of chromosomal aberrations revealing high genetic instability and a consistent gain of chromosome arm 3q. Genes Chromosomes Cancer (1997) 2.06

Unnatural ligands for engineered proteins: new tools for chemical genetics. Annu Rev Biophys Biomol Struct (2000) 1.99

Demonstration of pulmonary arteries by contrast injection into pulmonary vein. Br Heart J (1978) 1.99

Human papillomaviruses in women with a history of abnormal Papanicolaou smears and in their male partners. Obstet Gynecol (1987) 1.97

Engineering Src family protein kinases with unnatural nucleotide specificity. Chem Biol (1998) 1.81

Blockade of the voltage-gated potassium channel Kv1.3 inhibits immune responses in vivo. J Immunol (1997) 1.80

Is the risk of cancer increased in Asians living in the UK? Arch Dis Child (1994) 1.79

Human exposure to SV40: review and comment. Am J Epidemiol (1976) 1.77

Binomial cokriging for estimating and mapping the risk of childhood cancer. IMA J Math Appl Med Biol (1998) 1.77

Carcinoid tumours of the appendix in children 1957-1986: incidence, treatment and outcome. Br J Surg (1993) 1.71

Divided right ventricle: a review of its anatomical varieties. Pediatr Cardiol (1985) 1.65

The value to the anesthesia-surgical care team of the preoperative cardiac consultation. J Cardiothorac Anesth (1989) 1.61

Identification to the species level and differentiation between strains of Aspergillus clinical isolates by automated repetitive-sequence-based PCR. J Clin Microbiol (2004) 1.59

Cervical neoplasia and repeated positivity of human papillomavirus infection in human immunodeficiency virus-seropositive and -seronegative women. Am J Epidemiol (2000) 1.57

Lead intoxication in children in Birmingham. Br Med J (1973) 1.51

Thrombocytopenia and human immunodeficiency virus in children. Pediatrics (1988) 1.49

The oral management of patients who have received radiotherapy to the head and neck region. Br Dent J (2013) 1.46

Defining the risk of toxicity in phase I oncology trials of novel molecularly targeted agents: a single centre experience. Ann Oncol (2012) 1.44

Analysis of the extractive and hydrolytic behavior of microthane poly(ester-urethane) foam by high pressure liquid chromatography. J Biomed Mater Res (1993) 1.42

Loss of FHIT expression in cervical carcinoma cell lines and primary tumors. Cancer Res (1997) 1.42

Early age at first sexual intercourse and early pregnancy are risk factors for cervical cancer in developing countries. Br J Cancer (2009) 1.40

Identification of new JNK substrate using ATP pocket mutant JNK and a corresponding ATP analogue. J Biol Chem (2001) 1.39

Selective laser trabeculoplasty versus argon laser trabeculoplasty: results from a 1-year randomised clinical trial. Br J Ophthalmol (2006) 1.37

Pharmacological differences between the human and rat vanilloid receptor 1 (VR1). Br J Pharmacol (2001) 1.35

Childhood cancer in the West Midlands: incidence and survival, 1980-1984, in a multi-ethnic population. Clin Oncol (R Coll Radiol) (1992) 1.33

Clinical guidelines to diagnose smear-negative pulmonary tuberculosis in Pakistan, a country with low-HIV prevalence. Trop Med Int Health (2006) 1.25

Neonatal tumours: a thirty-year population-based study. Med Pediatr Oncol (1994) 1.24

Opportunistic infections in acquired immune deficiency syndrome result from synergistic defects of both the natural and adaptive components of cellular immunity. J Clin Invest (1986) 1.23

The major lung cancer-derived mutants of ERBB2 are oncogenic and are associated with sensitivity to the irreversible EGFR/ERBB2 inhibitor HKI-272. Oncogene (2007) 1.23

A molecular gate which controls unnatural ATP analogue recognition by the tyrosine kinase v-Src. Bioorg Med Chem (1998) 1.23

Genital tract papillomavirus infection in children. Arch Dermatol (1986) 1.21

Key factors in the optimization of paediatric X-ray practice. Br J Radiol (2001) 1.21

Social differences in sexual behaviour and cervical cancer. IARC Sci Publ (1997) 1.20

Specific identification of human papillomavirus type in cervical smears and paraffin sections by in situ hybridization with radioactive probes: a preliminary communication. Int J Gynecol Pathol (1985) 1.19

Correolide and derivatives are novel immunosuppressants blocking the lymphocyte Kv1.3 potassium channels. Cell Immunol (1999) 1.19

Cine-angiocardiography in Acyanotic Heart Disease of Infancy. Proc R Soc Med (1957) 1.18

A multifaceted study of human papillomavirus and prostate carcinoma. Cancer (1998) 1.18

The cost of juvenile-onset recurrent respiratory papillomatosis. Arch Otolaryngol Head Neck Surg (2000) 1.17

Hyaluronic acid skin fillers: adverse reactions and skin testing. J Am Acad Dermatol (2001) 1.14

Engineering of the myosin-ibeta nucleotide-binding pocket to create selective sensitivity to N(6)-modified ADP analogs. J Biol Chem (1999) 1.14

A geostatistical approach to the analysis of pattern in rare disease. J Public Health Med (1992) 1.13

Surface vs core-tonsillar aerobic and anaerobic flora in recurrent tonsillitis. JAMA (1980) 1.13

Circulating human plasmacytoid dendritic cells are highly sensitive to corticosteroid administration. Lupus (2003) 1.13

Electrocardiographic J waves after resuscitation from cardiac arrest. Chest (1990) 1.13

Balloon septostomy for transposition of the great arteries. Br Heart J (1969) 1.12

Immunohistochemical detection of p53 protein accumulation in head and neck cancer: correlation with p53 gene alterations. Hum Pathol (1999) 1.11

Haemodynamic effects of balloon septostomy in tricuspid atresia. Br Med J (1968) 1.10

Bacteriology of adenoids and tonsils in children with recurrent adenotonsillitis. Ann Otol Rhinol Laryngol (2001) 1.10

p53 gene mutations and MDM2 amplification are uncommon in primary carcinomas of the uterine cervix. Am J Pathol (1993) 1.09

A comparison of risk factors in juvenile-onset and adult-onset recurrent respiratory papillomatosis. Laryngoscope (1992) 1.09

Pulmonary artery banding and subsequent repair in ventricular septal defect. Br Heart J (1973) 1.08

Giant cell pneumonia complicating acute lymphoblastic leukemia in remission. Ann Radiol (Paris) (1977) 1.07

The interaction between i.v. theophylline and chronic oral dosing with slow release nifedipine in volunteers. Br J Clin Pharmacol (1986) 1.06

The Birmingham twin survey. Proc R Soc Med (1968) 1.05

Cloning of a cysteine protease required for the molting of Onchocerca volvulus third stage larvae. J Biol Chem (1996) 1.05

Serological Investigation of the possibility of congenital transmission of papovavirus JC. Infect Immun (1981) 1.04

Serological investigation of BK papovavirus infection in pregnant women and their offspring. Infect Immun (1980) 1.04

Evaluation of the home-based maternal record: a WHO collaborative study. Bull World Health Organ (1993) 1.04

A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis. N Engl J Med (1980) 1.04

Engagement of commissioners, primary and secondary care for developing successful ADHD services. Eur Child Adolesc Psychiatry (2013) 1.03

Double outlet right ventricle. Study of 27 cases. Br Heart J (1976) 1.02

Lingual dermoid cyst. Otolaryngol Head Neck Surg (1995) 1.02

Measles antibody in vaccinated human immunodeficiency virus type 1-infected children. Pediatrics (1996) 1.02

Human papillomavirus in squamous cell carcinoma, leukoplakia, lichen planus, and clinically normal epithelium of the oral cavity. Ann Otol Rhinol Laryngol (1990) 1.01

Radiosensitivity in ataxia-telangiectasia. Br J Radiol (1975) 1.01

Human papillomavirus-associated cervical cytologic abnormalities among women with or at risk of infection with human immunodeficiency virus. Am J Obstet Gynecol (2001) 1.01

Foamy myocardial transformation of infancy: an inherited disease. J Clin Pathol (1987) 1.00

Rarity of cesarean delivery in cases of juvenile-onset respiratory papillomatosis. Obstet Gynecol (1986) 0.99

Detection of HPV-16 in cell lines and cervical lavage specimens by a polymerase chain reaction-enzyme immunoassay assay. J Med Virol (1992) 0.98

Familial hematuria; clinico-pathological correlations. Clin Nephrol (1982) 0.97

Anxiogenic-like effects of mCPP and TFMPP in animal models are opposed by 5-HT1C receptor antagonists. Eur J Pharmacol (1989) 0.97

Microbiology of healthy and diseased adenoids. Laryngoscope (2000) 0.97

Metaphyseal fractures in osteogenesis imperfecta. Br J Radiol (1979) 0.96

Adjunctive testing for cervical cancer in low resource settings with visual inspection, HPV, and the Pap smear. Int J Gynaecol Obstet (2001) 0.96

13q- syndrome. Family study. Arch Dis Child (1977) 0.96

Transposition of great arteries. A study of 65 infants followed for 1 to 4 years after balloon septostomy. Br Heart J (1971) 0.96

Detection of genital human papillomavirus and associated cytological abnormalities among college women. Sex Transm Dis (1998) 0.96

Glomerular morphometry I: nephrotic syndrome in childhood. Histopathology (1981) 0.96

Descriptive epidemiology of primary central nervous system tumours in children: a population-based study. Clin Oncol (R Coll Radiol) (1991) 0.96

Hodgkin's disease in children in the West Midlands, 1957-1986: a large population-based study. Pediatr Hematol Oncol (1995) 0.95

Real-time imaging of the dynamics of death receptors and therapeutics that overcome TRAIL resistance in tumors. Oncogene (2012) 0.95

Ultrastructure of the non-sclerotic glomeruli in childhood nephrotic syndrome. J Pathol (1982) 0.94

Glomerular morphometry II: familial and nonfamilial haematuria. Histopathology (1981) 0.94

The predominance of human papillomavirus type 16 in vulvar neoplasia. Obstet Gynecol (1988) 0.94

The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies. J Med Genet (1983) 0.94

Contemporary management and outcomes for infants born with oesophageal atresia. Br J Surg (2013) 0.93

Aerobic and anaerobic bacteriologic features of serous otitis media in children. Am J Otolaryngol (1984) 0.93