Published in J Med Genet on April 01, 1995
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet (2003) 3.01
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet (1999) 1.36
SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement. BMC Med Genet (2015) 0.75
An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Hum Genet (1976) 2.14
Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet (1980) 1.68
Duplication of distal 22q. Am J Med Genet (1989) 1.49
Inverted tandem ("mirror") duplications in human chromosomes: -nv dup 8p, 4q, 22q. Am J Med Genet (1977) 0.99
A cytogenetic study directly from chorionic villi of 140 spontaneous abortions. Hum Genet (1987) 0.90
Full trisomy 22 in a newborn infant. Ann Genet (1987) 0.89
Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13). Hum Genet (1981) 0.84
Trisomy 22 in a newborn with multiple malformations. Hum Genet (1987) 0.84
Full trisomy 22 in a malformed newborn female. Ann Genet (1991) 0.83
Trisomy 22 confirmed by fluorescent in situ hybridization. Am J Med Genet (1993) 0.82
Midtrimester diagnosis and anomalies in the dup(22q) syndrome: correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios. Am J Med Genet (1990) 0.82
The 22q distal trisomy syndrome in a recombinant child. Ann Genet (1988) 0.81
Partial trisomy 22 with Dandy-Walker malformation. Acta Paediatr Jpn (1990) 0.80
Duplication of the segment q12.2 leads to qter of chromosome 22 due to paternal inversion 22(p13q12.2). Hum Genet (1983) 0.79
22q distal duplication syndrome. Am J Med Genet (1989) 0.79
On a Back Cross in Mice Involving Three Allelomorphic Pairs of Characters. Genetics (1918) 6.12
On the Interpretation of Multi-Hit Survival Curves. Proc Natl Acad Sci U S A (1949) 5.96
Randomized trial comparing epirubicin, cisplatin, and fluorouracil versus fluorouracil, doxorubicin, and methotrexate in advanced esophagogastric cancer. J Clin Oncol (1997) 5.89
Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II. Proc Natl Acad Sci U S A (1999) 4.11
Prospective randomized trial comparing mitomycin, cisplatin, and protracted venous-infusion fluorouracil (PVI 5-FU) With epirubicin, cisplatin, and PVI 5-FU in advanced esophagogastric cancer. J Clin Oncol (2002) 3.98
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol (2013) 3.28
Effect of reactive pharmacy intervention on quality of hospital prescribing. BMJ (1990) 3.25
Cardiovascular disease as a long-term complication of treatment for testicular cancer. J Clin Oncol (2003) 3.10
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet (1999) 3.01
A prospective randomised trial of protracted venous infusion 5-fluorouracil with or without mitomycin C in advanced colorectal cancer. Ann Oncol (1997) 2.71
Bile acid transformations by microbial strains belonging to genera found in intestinal contents. Acta Pathol Microbiol Scand (1967) 2.33
Rapid gas-liquid chromatographic estimation of antipyrine in plasma. J Pharm Pharmacol (1973) 2.31
DHEA treatment of Alzheimer's disease: a randomized, double-blind, placebo-controlled study. Neurology (2003) 2.14
Royal Marsden phase III trial of fluorouracil with or without interferon alfa-2b in advanced colorectal cancer. J Clin Oncol (1995) 2.08
A phase II study in advanced gastro-esophageal cancer using epirubicin and cisplatin in combination with continuous infusion 5-fluorouracil (ECF). Ann Oncol (1994) 2.02
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. J Med Genet (2004) 2.02
Fractional utilization of the aerobic capacity during distance running. Med Sci Sports (1973) 1.93
Randomized trial of a specialist genetic assessment service for familial breast cancer. J Natl Cancer Inst (2000) 1.92
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet (2000) 1.91
Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore) (1991) 1.89
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol (2011) 1.85
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet (2006) 1.85
Biochemical-physiological correlations in studies of the gamma-aminobutyric acid system. Brain Res (1968) 1.80
Analysis of result variability from high-density oligonucleotide arrays comparing same-species and cross-species hybridizations. Biotechniques (2002) 1.80
Long-term survival after epirubicin, cisplatin and fluorouracil for gastric cancer: results of a randomized trial. Br J Cancer (1999) 1.80
Three distinct DNA ligases in mammalian cells. J Biol Chem (1991) 1.79
A carbon-phosphorus bond in nature. Science (1969) 1.77
Proliferation of human lymphocytes in culture. Nature (1966) 1.76
A comparison of treatment planning techniques used in two randomised UK external beam radiotherapy trials for localised prostate cancer. Clin Oncol (R Coll Radiol) (2007) 1.75
GABA neurons are the major cell type of the nucleus reticularis thalami. Brain Res (1980) 1.72
FDG-PET in the prediction of survival of patients with cancer of the pancreas: a pilot study. Br J Cancer (2000) 1.68
A test for the practical evaluation of male fertility by acridine orange (AO) fluorescence. Fertil Steril (1984) 1.68
Weight history, glucose intolerance, and insulin levels in middle-aged Swedish men. Am J Epidemiol (1998) 1.66
Cloning of Drosophila choline acetyltransferase cDNA. Proc Natl Acad Sci U S A (1986) 1.65
A genetic register for von Hippel-Lindau disease. J Med Genet (1996) 1.61
Adjuvant or palliative chemotherapy for colorectal cancer in patients 70 years or older. J Clin Oncol (1999) 1.59
Rapid destructive osteoarthritis: clinical, radiographic, and pathologic features. Radiology (1992) 1.56
The mutational spectrum in Waardenburg syndrome. Hum Mol Genet (1995) 1.55
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. J Med Genet (2003) 1.53
Molecular mapping of Alzheimer-type dementia in Down's syndrome. Ann Neurol (1998) 1.50
Parameters in 7-alpha-dehydroxylation of bile acids by anaerobic lactobacilli. Acta Pathol Microbiol Scand (1968) 1.50
A randomized study of the use of a customized immobilization system in the treatment of prostate cancer with conformal radiotherapy. Radiother Oncol (2000) 1.49
The fine structural localization of glutamate decarboxylase in synaptic terminals of rodent cerebellum. Brain Res (1974) 1.48
Memory-enhancing effects in male mice of pregnenolone and steroids metabolically derived from it. Proc Natl Acad Sci U S A (1992) 1.46
Baseline quality of life predicts survival in patients with advanced colorectal cancer. Eur J Cancer (2002) 1.45
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet (2000) 1.45
Predicting normal tissue injury in radiation therapy. Int J Radiat Oncol Biol Phys (1991) 1.43
Endoscopic evaluation of the gastro-duodenal tolerance of short-term analgesic treatment with 25 mg diclofenac-K liquid capsules. Aliment Pharmacol Ther (2012) 1.43
The survival of Class V restorations in general dental practice: part 3, five-year survival. Br Dent J (2012) 1.42
Using intact nerve to bridge peripheral nerve defects: an alternative to the use of nerve grafts. J Hand Surg Am (2001) 1.42
Is supplementation with elemental diet feasible in patients undergoing pelvic radiotherapy? Clin Nutr (2005) 1.39
The survival of Class V restorations in general dental practice. Part 2, early failure. Br Dent J (2011) 1.39
Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. J Med Genet (2006) 1.39
Microwave life-detection systems for searching human subjects under earthquake rubble or behind barrier. IEEE Trans Biomed Eng (2000) 1.39
Inhibition of norfloxacin absorption by antacids. Antimicrob Agents Chemother (1990) 1.38
Isolated fecal microorganisms capable of 7-alpha-dehydroxylating bile acids. J Exp Med (1966) 1.36
Myositis ossificans with atypical clinical, radiographic, or pathologic findings: a review of 23 cases. Skeletal Radiol (1992) 1.34
Determination of bile acid conversion potencies of intestinal bacteria by screening in vitro and subsequent establishment in germfree rats. Acta Pathol Microbiol Scand B Microbiol Immunol (1971) 1.32
Purification and characterization of glutamate decarboxylase from mouse brain. J Biol Chem (1973) 1.32
Epirubicin, cisplatin and infusional 5-fluorouracil (5-FU) (ECF) in hepatobiliary tumours. Eur J Cancer (1995) 1.31
Oral hydralazine therapy for chronic refractory heart failure. Circulation (1976) 1.30
Vitamin D compounds. Effect on clonal proliferation and differentiation of human myeloid cells. J Clin Invest (1986) 1.29
Elevation of gamma-aminobutyric acid in brain with amino-oxyacetic acid and susceptibility to convulsive seizures in mice: a quantitative re-evaluation. Biochem Pharmacol (1966) 1.29
Distended left renal vein: CT/sonographic normal variant. AJR Am J Roentgenol (1980) 1.28
Electron microscopic study of methylcholanthrene-induced epidermal carcinogenesis in mice: mitochondrial dense bodies and intracisternal A-particles. Cancer Res (1970) 1.28
The experimental herbicide CGA 325'615 inhibits synthesis of crystalline cellulose and causes accumulation of non-crystalline beta-1,4-glucan associated with CesA protein. Plant Physiol (2001) 1.27
Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. J Med Genet (2003) 1.27
Influence of metastatic site as an additional predictor for response and outcome in advanced colorectal carcinoma. Br J Cancer (1999) 1.27
A NEW MUTATION IN THE HOUSE MOUSE (MUS MUSCULUS). Science (1931) 1.26
Excretion of 3beta-hydroxy-5-cholenoic and 3a-hydroxy-5a-cholanoic acids in urine of infants with biliary atresia. FEBS Lett (1971) 1.26
Dose-ranging pharmacokinetic study of ciprofloxacin after 200-, 300-, and 400-mg intravenous doses. Ann Pharmacother (1992) 1.25
Precision in estimating gestational age and its influence on sensitivity of alphafetoprotein screening. Br Med J (1979) 1.24
Osteonecrosis of the distal pole of the carpal scaphoid following fracture--a rare complication. Skeletal Radiol (1983) 1.24
Fertility after chemotherapy for testicular germ cell cancers. J Clin Oncol (1997) 1.24
Effects of naloxone in senile dementia: a double-blind trial. N Engl J Med (1983) 1.23
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet (2005) 1.23
Selection against chromosome aberrations in human lymphocytes. Nature (1967) 1.23
Chemotherapy for primary gastric lymphoma: does in-patient observation prevent complications? Clin Oncol (R Coll Radiol) (2004) 1.23
Tumor necrosis factor-alpha stimulates the maturation of sterol regulatory element binding protein-1 in human hepatocytes through the action of neutral sphingomyelinase. J Biol Chem (1998) 1.22
Cytogenetically cryptic AML1-ETO and CBF beta-MYH11 gene rearrangements: incidence in 412 cases of acute myeloid leukaemia. Br J Haematol (2000) 1.22
The origin, distribution and synaptic relationships of substance P axons in rat spinal cord. J Comp Neurol (1979) 1.21
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet (2003) 1.21
Effects of protease inhibitors on growth of hamster tumor cells in culture. Cancer Res (1972) 1.20
Potentially predictive and manipulable blood serum correlates of aging in the healthy human male: progressive decreases in bioavailable testosterone, dehydroepiandrosterone sulfate, and the ratio of insulin-like growth factor 1 to growth hormone. Proc Natl Acad Sci U S A (1997) 1.19
Long-term outcome of autologous stem-cell transplantation in relapsed or refractory Hodgkin's lymphoma. Ann Oncol (2008) 1.18
Bile acids and pancreatic enzymes during absorption in the newborn. Acta Paediatr Scand (1972) 1.17
Fertility, gonadal and sexual function in survivors of testicular cancer. Br J Cancer (2005) 1.15
The gamma-aminobutyric acid system in rabbit retina. Brain Res (1968) 1.15
The cytoarchitecture of GABAergic neurons in rat spinal cord. Brain Res (1982) 1.15
The Royal Marsden experience of a small bowel adenocarcinoma treated with protracted venous infusion 5-fluorouracil. Br J Cancer (1998) 1.15
Inhibition of parathyroid hormone secretion by 25-hydroxycholecalciferol and 24,25-dihydroxycholecalciferol in the dog. J Clin Invest (1978) 1.14
The induction of micronuclei in human lymphocytes by low doses of radiation. Int J Radiat Biol Relat Stud Phys Chem Med (1987) 1.14
Intracapsular and paraarticular chondromas. Clin Orthop Relat Res (1994) 1.14
Syncytial giant-cell hepatitis. Sporadic hepatitis with distinctive pathological features, a severe clinical course, and paramyxoviral features. N Engl J Med (1991) 1.13
GABAergic terminals are presynaptic to primary afferent terminals in the substantia gelatinosa of the rat spinal cord. Brain Res (1978) 1.13
Amnestic effects in mice of four synthetic peptides homologous to amyloid beta protein from patients with Alzheimer disease. Proc Natl Acad Sci U S A (1991) 1.12
New diarylmethylpiperazines as potent and selective nonpeptidic delta opioid receptor agonists with increased In vitro metabolic stability. J Med Chem (2000) 1.11
Immunocytochemical localization of glutamate decarboxylase in rat substantia nigra. Brain Res (1976) 1.11
Are we discussing SUDEP?--A retrospective case note analysis. Seizure (2012) 1.11
Radial head-capitellum view in elbow trauma: clinical application and radiographic-anatomic correlation. AJR Am J Roentgenol (1984) 1.11