Published in Am J Med Genet on September 01, 1985
Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome). J Med Genet (1986) 0.81
A compendium of gene expression in normal human tissues. Physiol Genomics (2001) 5.66
Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet (1968) 4.41
The IgA system. I. Studies of the transport and immunochemistry of IgA in the saliva. J Exp Med (1966) 3.97
Selective IgA deficiency: presentation of 30 cases and a review of the literature. Medicine (Baltimore) (1971) 3.57
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T-DNA insertional mutagenesis for functional genomics in rice. Plant J (2000) 3.25
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11
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The cellular immune defect in chronic mucocutaneous candidiasis. Lancet (1969) 2.53
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Resynthesizing evolutionary and developmental biology. Dev Biol (1996) 2.50
Conference report: International Workshop on the fragile X and X-linked mental retardation. Am J Med Genet (1984) 2.49
Design and cohort description of the InterAct Project: an examination of the interaction of genetic and lifestyle factors on the incidence of type 2 diabetes in the EPIC Study. Diabetologia (2011) 2.43
Further comments on the lissencephaly syndromes. Am J Med Genet (1985) 2.42
Radiofrequency ablation of spinal tumors: temperature distribution in the spinal canal. AJR Am J Roentgenol (2000) 2.41
Noonan syndrome: a review. Am J Med Genet (1985) 2.40
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
Fetal exposure to an intra-amniotic inflammation and the development of cerebral palsy at the age of three years. Am J Obstet Gynecol (2000) 2.30
Amniotic fluid inflammatory cytokines (interleukin-6, interleukin-1beta, and tumor necrosis factor-alpha), neonatal brain white matter lesions, and cerebral palsy. Am J Obstet Gynecol (1997) 2.30
Chronic mucocutaneous candidiasis, deficiency of delayed hypersensitivity, and selective local antibody defect. Lancet (1967) 2.19
Endoscopic resection of submucosal tumor of the esophagus: results in 62 patients. Endoscopy (1997) 2.11
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol (1988) 2.06
Comparison of HIV prevalence estimates from antenatal care surveillance and population-based surveys in sub-Saharan Africa. Sex Transm Infect (2008) 2.06
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Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. Eur J Pediatr (1983) 1.98
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd (1974) 1.93
Human serum interactions with Candida albicans. J Immunol (1968) 1.93
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter). Am J Med Genet (1977) 1.93
Elastogenesis in human aorta: an electron microscopic study. Exp Mol Pathol (1965) 1.91
Imbalances of gamma globulin subgroups and gene defects in patients with primary hypogammaglobulinemia. J Clin Invest (1970) 1.86
Hypochondroplasia. Am J Dis Child (1971) 1.86
Molecular epidemiological analysis of quinolone-resistant Escherichia coli causing bacteremia in neutropenic patients with leukemia in Korea. Clin Infect Dis (1997) 1.83
Investigation of human brain hemodynamics by simultaneous near-infrared spectroscopy and functional magnetic resonance imaging. Med Phys (2001) 1.81
A dietary pattern protective against type 2 diabetes in the European Prospective Investigation into Cancer and Nutrition (EPIC)--Potsdam Study cohort. Diabetologia (2005) 1.79
Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet (2002) 1.79
Interleukin-6 concentrations in umbilical cord plasma are elevated in neonates with white matter lesions associated with periventricular leukomalacia. Am J Obstet Gynecol (1996) 1.79
The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl (1986) 1.77
The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature. Am J Med Genet (1984) 1.77
The Brachmann-de Lange syndrome. Am J Med Genet (1985) 1.76
Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76
Analysis of errors in medical rapid prototyping models. Int J Oral Maxillofac Surg (2002) 1.76
Amniotic fluid interleukin-6: a sensitive test for antenatal diagnosis of acute inflammatory lesions of preterm placenta and prediction of perinatal morbidity. Am J Obstet Gynecol (1995) 1.76
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71
Increased expression of cyclooxygenase-2 protein in human gastric carcinoma. Clin Cancer Res (2000) 1.67
Cutaneous adverse effects in patients treated with the multitargeted kinase inhibitors sorafenib and sunitinib. Br J Dermatol (2009) 1.67
Transfer of cellular hypersensitivity in chronic mucocutaneous candidiasis monitored in vivo and in vitro. Cell Immunol (1970) 1.64
Fine fibrils of extracellular space (microfibrils). Their structure and role in connective tissue organization. Am J Pathol (1965) 1.63
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. Am J Med Genet (1993) 1.60
Spondyloepiphyseal dysplasia. Birth Defects Orig Artic Ser (1974) 1.60
Lymphocyte studies in congenital thymic dysplasia: The one-way stimulation test. J Pediatr (1968) 1.59
Selective T cell killing of human lymphocytes by ultraviolet radiation. Cell Immunol (1974) 1.59
Treatment of lymphopenic hypogammaglobulinemia and bone-marrow aplasia by transplantation of allogeneic marrow. Crucial role of histocompatiility matching. N Engl J Med (1969) 1.58
Dyschondrosteosis. The most common cause of Madelung's deformity. J Pediatr (1966) 1.57
Dicaffeoyl- or digalloyl pyrrolidine and furan derivatives as HIV integrase inhibitors. Bioorg Med Chem (2001) 1.56
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet (1975) 1.56
I-cell disease: a clinical picture. J Pediatr (1971) 1.54
A model for colostral IgA. Proc Natl Acad Sci U S A (1966) 1.53
Relative labilities of the two types of interchain disulfide bond of rabbit gamma G-immunoglobulin. J Biol Chem (1965) 1.53
Metabolic syndrome and cerebral vasomotor reactivity. Eur J Neurol (2010) 1.53
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
Severe combined immunodeficiency, interleukin-2 (IL-2), and the IL-2 receptor: experiments of nature continue to point the way. Blood (1994) 1.50
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. Am J Med Genet (1990) 1.50
Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet (1994) 1.50
"New" dwarfing syndromes. Birth Defects Orig Artic Ser (1977) 1.49
The neurofibromatosis-Noonan syndrome. Am J Med Genet (1985) 1.49
Efficacy of Helicobacter pylori eradication therapy in chronic liver disease. Dig Liver Dis (2008) 1.48
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr (2000) 1.48
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilkd (1974) 1.48
Endoscopic submucosal dissection or transanal endoscopic microsurgery for nonpolypoid rectal high grade dysplasia and submucosa-invading rectal cancer. Endoscopy (2012) 1.47
The morphogenesis and fate of potential and early atherosclerotic lesions in man. Hum Pathol (1971) 1.47
Dual ectopic thyroid. Eur Arch Otorhinolaryngol (2002) 1.46
Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans. Am J Med Genet (1994) 1.46
Duplicate publication and related problems. Pediatrics (1990) 1.46
Lichenoid keratosis: a clinicopathologic study of 17 patients. J Am Acad Dermatol (2000) 1.45
The fine structure of synovial lining cells in rheumatoid arthritis. Lab Invest (1966) 1.45
Postthymectomy wasting associated with autoimmune phenomena. I. Antiglobulin-positive anemia in A and C57BL-6 Ks mice. J Exp Med (1967) 1.44
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. Am J Med Genet (1983) 1.44
The SC phocomelia and the Roberts syndrome: nosologic aspects. Eur J Pediatr (1977) 1.43
CNS anomalies and the midline as a "developmental field". Am J Med Genet (1982) 1.43
Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet Suppl (1986) 1.43
Further delineation of the 3-M syndrome with review of the literature. Am J Med Genet (1987) 1.43
Osteogenesis imperfecta: a clinical study of the first ten years of life. Calcif Tissue Int (1992) 1.43
A comparison of intra-operative blood loss and acid-base balance between vasopressor and inotrope strategy during living donor liver transplantation: a randomised, controlled study. Anaesthesia (2012) 1.42
Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A (1972) 1.42
Hypereosinophilic syndrome presenting as cutaneous necrotizing eosinophilic vasculitis and Raynaud's phenomenon complicated by digital gangrene. Br J Dermatol (2000) 1.42
Immunoglobulin E deficiency in ataxia-telangiectasia. N Engl J Med (1969) 1.42
Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am J Med Genet (1999) 1.41
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. Am J Med Genet (1998) 1.40
Mental retardation syndrome with renal concentration deficiency and intracerebral calcification. Eur J Pediatr (1990) 1.40
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet (1985) 1.40
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? Am J Med Genet (1996) 1.39
Isolation and sequence analysis of a cDNA clone for a carrot calcium-dependent protein kinase: homology to calcium/calmodulin-dependent protein kinases and to calmodulin. Plant Mol Biol (1991) 1.38