Published in Am J Hum Genet on September 01, 1990
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet (2005) 1.79
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. Am J Hum Genet (1992) 1.72
X linked mental retardation. J Med Genet (1991) 1.41
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J Med Genet (1999) 1.33
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet (1995) 1.18
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab (2007) 1.13
X-linked mental retardation: in pursuit of a gene map. Am J Hum Genet (1993) 1.03
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet (2002) 1.02
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. J Med Genet (2000) 1.02
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet (2011) 0.99
Evidence that SIZN1 is a candidate X-linked mental retardation gene. Am J Med Genet A (2008) 0.90
A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. J Med Genet (1998) 0.89
PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism. Mol Autism (2010) 0.86
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. J Med Genet (2005) 0.85
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). J Med Genet (1998) 0.83
Renpenning syndrome maps to Xp11. Am J Hum Genet (1998) 0.82
Surgical decision-making affected by clinical and genetic screening of a novel kindred with von Hippel-Lindau disease and pancreatic islet cell tumors. Ann Surg (1998) 0.78
A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. J Med Genet (1997) 0.78
Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. J Med Genet (1997) 0.78
Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands. J Med Genet (1996) 0.76
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem (1983) 206.01
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet (1985) 87.59
Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet (1984) 28.51
Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1989) 5.48
Report of the committee on linkage and gene order. Cytogenet Cell Genet (1989) 2.76
Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet (1986) 1.92
A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13. Cytogenet Cell Genet (1986) 1.69
Allan-Herndon syndrome. I. Clinical studies. Am J Hum Genet (1990) 1.50
MASA syndrome: further clinical delineation and chromosomal localisation. Hum Genet (1989) 1.49
Fragile X-linked mental retardation: the Martin-Bell syndrome. J Ment Defic Res (1981) 1.20
Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome. Genomics (1987) 1.09
A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. Am J Med Genet (1985) 0.99
Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq. Am J Med Genet (1987) 0.93
A probe from an X-Y homology region detects RFLPs in Xq13-q22. Nucleic Acids Res (1989) 0.83
Tolerance of normal tissue to therapeutic irradiation. Int J Radiat Oncol Biol Phys (1991) 13.16
CHEMICAL, CLINICAL, AND IMMUNOLOGICAL STUDIES ON THE PRODUCTS OF HUMAN PLASMA FRACTIONATION. VI. THE OSMOTIC PRESSURE OF PLASMA AND OF SERUM ALBUMIN. J Clin Invest (1944) 11.81
Effect of preoperative chemotherapy on the outcome of women with operable breast cancer. J Clin Oncol (1998) 9.32
CHEMICAL, CLINICAL, AND IMMUNOLOGICAL STUDIES ON THE PRODUCTS OF HUMAN PLASMA FRACTIONATION. IV. A STUDY OF THE THERMAL STABILITY OF HUMAN SERUM ALBUMIN. J Clin Invest (1944) 8.92
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66
Effect of preoperative chemotherapy on local-regional disease in women with operable breast cancer: findings from National Surgical Adjuvant Breast and Bowel Project B-18. J Clin Oncol (1997) 6.35
Neural stem cells display extensive tropism for pathology in adult brain: evidence from intracranial gliomas. Proc Natl Acad Sci U S A (2000) 5.49
Risk of exposure of surgical personnel to patients' blood during surgery at San Francisco General Hospital. N Engl J Med (1990) 4.74
Some Social Aspects of Burns in Glasgow. Br Med J (1945) 4.66
Hospital in the home: a randomised controlled trial. Med J Aust (1999) 4.60
Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science (1997) 4.55
Mortality of employees of the Atomic Weapons Establishment, 1951-82. BMJ (1988) 3.82
ENTERAL INFECTIONS IN ACUTE INTESTINAL INTOXICATION. Can Med Assoc J (1930) 3.74
Fermentation of glucose, fructose, and xylose by Clostridium thermoaceticum: effect of metals on growth yield, enzymes, and the synthesis of acetate from CO 2 . J Bacteriol (1973) 3.71
Effects of a height and weight adjusted dose of local anaesthetic for spinal anaesthesia for elective Caesarean section. Anaesthesia (2005) 3.63
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet (1994) 3.38
Ubiquitousness of Legionella pneumophila in the water supply of a hospital with endemic Legionnaires' disease. N Engl J Med (1982) 3.25
Crude-oil biodegradation via methanogenesis in subsurface petroleum reservoirs. Nature (2007) 3.06
Isolation of Legionella pneumophila from hospital shower heads. Ann Intern Med (1981) 2.89
Rapid movement of axonal neurofilaments interrupted by prolonged pauses. Nat Cell Biol (2000) 2.75
Efficacy of gemcitabine plus platinum chemotherapy compared with other platinum containing regimens in advanced non-small-cell lung cancer: a meta-analysis of survival outcomes. Lung Cancer (2005) 2.71
An Address ON THE SEASONAL VARIATION OF THE ANTIRACHITIC EFFECT OF SUNSHINE AND ITS EFFECT ON RESISTANCE TO DISEASE. Can Med Assoc J (1927) 2.65
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet (1972) 2.65
Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors. Development (1998) 2.59
Plasmid and surface antigen markers of endemic and epidemic Legionella pneumophila strains. J Clin Microbiol (1982) 2.57
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros (2008) 2.56
Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor. Oncogene (2010) 2.53
Influenza Meningitis with Report of Two Cases. Can Med Assoc J (1915) 2.52
Partially unfolded states of beta(2)-microglobulin and amyloid formation in vitro. Biochemistry (2000) 2.47
Contribution of dietary oxalate to urinary oxalate excretion. Kidney Int (2001) 2.45
Synthesis and circularization of N- and B-tropic retroviral DNA Fv-1 permissive and restrictive mouse cells. Proc Natl Acad Sci U S A (1980) 2.45
Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22. Am J Hum Genet (2004) 2.41
Risk of admission within 4 weeks of discharge of elderly patients from the emergency department--the DEED study. Discharge of elderly from emergency department. Age Ageing (1998) 2.38
Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet (1994) 2.31
Plasmodium falciparum malaria and Salmonella infections in Gambian children. J Infect Dis (1987) 2.23
A STUDY OF THE RELATIVE ANTIRACHITIC VALUE OF COD LIVER OIL, VIOSTEROL AND IRRADIATED MILK. Can Med Assoc J (1934) 2.21
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet (1997) 2.19
Persistent nonconvulsive status epilepticus after the control of convulsive status epilepticus. Epilepsia (1998) 2.18
Peri-operative care of the elderly 2014: Association of Anaesthetists of Great Britain and Ireland. Anaesthesia (2014) 2.18
Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet (1998) 2.16
On the concept of orbital steering in catalytic reactions. Proc Natl Acad Sci U S A (1971) 2.15
Re-engineering the elective surgical service of a tertiary hospital: a historical controlled trial. Med J Aust (1998) 2.09
Dye-containing buffered charcoal-yeast extract medium for differentiation of members of the family Legionellaceae. J Clin Microbiol (1981) 2.03
A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Nature (1988) 2.02
Antibiotic activity and characterization of BB-3497, a novel peptide deformylase inhibitor. Antimicrob Agents Chemother (2001) 2.01
Early vascular injury and increased vascular permeability in gastric mucosal injury caused by ethanol in the rat. Gastroenterology (1985) 1.94
Influence of tumor estrogen and progesterone receptor levels on the response to tamoxifen and chemotherapy in primary breast cancer. J Clin Oncol (1983) 1.94
Vancomycin-resistant Enterococcus faecium on a pediatric oncology ward: duration of stool shedding and incidence of clinical infection. Pediatr Infect Dis J (1996) 1.93
The ARKdb: genome databases for farmed and other animals. Nucleic Acids Res (2001) 1.89
The dependence of some strains of Mycobacterium avium on mycobactin for initial and subsequent growth. J Med Microbiol (1978) 1.86
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell (1994) 1.85
Predictors of extubation success and failure in mechanically ventilated infants and children. Crit Care Med (1996) 1.83
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am J Hum Genet (1988) 1.83
Electrophoretic characterization of soluble protein extracts of Legionella pneumophila and other members of the family Legionellaceae. J Clin Microbiol (1983) 1.81
An attenuated aroA Salmonella typhimurium vaccine elicits humoral and cellular immunity to cloned beta-galactosidase in mice. J Infect Dis (1987) 1.81
Obstacles and approaches to clinical database research: experience at the University of California, San Francisco. Proc Annu Symp Comput Appl Med Care (1994) 1.78
The pathogenicity of Mycobacterium avium and related mycobacteria for experimental animals. J Med Microbiol (1983) 1.72
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet (1996) 1.68
A new nomenclature for int-1 and related genes: the Wnt gene family. Cell (1991) 1.67
Acute Intestinal Intoxication in Infants : An Analysis of Seventy-five Cases Treated in the Hospital for Sick Children, Toronto, During the Summer of 1922. Can Med Assoc J (1923) 1.65
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet (2009) 1.64
Alterations in elastin of the optic nerve head in human and experimental glaucoma. Br J Ophthalmol (1991) 1.64
The complete nucleotide sequence of enterovirus type 70: relationships with other members of the picornaviridae. J Gen Virol (1990) 1.64
Internet can be accessed from NHSnet. BMJ (1998) 1.63
A retrospective evaluation of the impact of total smoking cessation on psychiatric inpatients taking clozapine. Acta Psychiatr Scand (2009) 1.62
Successful tumour immunotherapy with cimetidine in mice. Lancet (1981) 1.62
Down your drink: a web-based intervention for people with excessive alcohol consumption. Alcohol Alcohol (2003) 1.62
Identification of amino acid residues critical for aggregation of human CC chemokines macrophage inflammatory protein (MIP)-1alpha, MIP-1beta, and RANTES. Characterization of active disaggregated chemokine variants. J Biol Chem (1999) 1.62
Spread of the multiresistant Iberian clone of methicillin-resistant Staphylococcus aureus (MRSA) to Italy and Scotland. Microb Drug Resist (1998) 1.62
Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics (1986) 1.60
Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc Natl Acad Sci U S A (1976) 1.60
Serological and genotypic diversity among serogroup 5- reacting environmental Legionella isolates. J Clin Microbiol (1982) 1.59
Carbohydrate ingestion influences skeletal muscle cytokine mRNA and plasma cytokine levels after a 3-h run. J Appl Physiol (1985) (2003) 1.56
Pathogenesis of temperature-sensitive mutants of sindbis virus in the embryonated egg. I. Characterization and kinetics of viral multiplication. Infect Immun (1974) 1.55
Characterization of Fv-1 host range strains of murine retroviruses by titration and p30 protein characteristics. Virology (1979) 1.55
Capillary gas chromatography-mass spectrometry of carbohydrate components of legionellae and other bacteria. J Chromatogr (1984) 1.55
A method for the isolation and culture of human colonic crypts in collagen gels. In Vitro Cell Dev Biol (1987) 1.54
Rheumatological ultrasound. Rheumatology (Oxford) (2003) 1.54
Effects of polyadenylic acids on functions of murine RNA tumor viruses. J Virol (1973) 1.53
A novel human STE20-related protein kinase, HGK, that specifically activates the c-Jun N-terminal kinase signaling pathway. J Biol Chem (1999) 1.53
A neuropathological study of vascular factors in late-life depression. J Neurol Neurosurg Psychiatry (2001) 1.53
The part played by the renal nerves in the production of water diuresis in the hypophysectomized and decerebrate dog. J Physiol (1940) 1.52
Allan-Herndon syndrome. I. Clinical studies. Am J Hum Genet (1990) 1.50
Krox-20 controls SCIP expression, cell cycle exit and susceptibility to apoptosis in developing myelinating Schwann cells. Development (1999) 1.50
The Influence of Improved Prenatal Nutrition upon the Infant. Can Med Assoc J (1942) 1.49
The incidence and prevalence of HIV infection among childbearing women living in Edinburgh city, 1982-1995. AIDS (1998) 1.48
Small-cell lung cancer after retinoblastoma. Lancet (1989) 1.48
Noncytopathic clearance of lymphocytic choriomeningitis virus from the hepatocyte. J Exp Med (1999) 1.47
Renal extraction of gentamicin in anesthetized dogs. Antimicrob Agents Chemother (1976) 1.45
Treatment of primary breast cancer with chemotherapy and tamoxifen. N Engl J Med (1981) 1.45
Microtubule dynamics in axons and dendrites. J Neurosci Res (1991) 1.45
Resistance training increases total energy expenditure and free-living physical activity in older adults. J Appl Physiol (1985) (2000) 1.43
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients. Am J Hum Genet (1990) 1.43
Cell growth inhibition by the multifunctional multivalent zinc-finger factor CTCF. Cancer Res (2001) 1.42
Hyperglycemia with hyperosmolal dehydration in nondiabetic infants. J Pediatr (1970) 1.42
Antigen- and receptor-driven regulatory mechanisms. II. Induction of suppressor T cells with idiotype-coupled syngeneic spleen cells. J Exp Med (1979) 1.42
Central pain from cerebral abscess: thalamic syndrome in AIDS patients with toxoplasmosis. Neurology (1992) 1.42
Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. Genomics (1999) 1.42