Published in Brain Dev on July 01, 2001
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet (2014) 1.58
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet (2006) 1.35
Describing the phenotype in Rett syndrome using a population database. Arch Dis Child (2003) 1.33
Rett syndrome: clinical review and genetic update. J Med Genet (2005) 1.31
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet (2005) 1.26
Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol (2007) 1.17
A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research. J Am Med Inform Assoc (2014) 1.13
Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet (2009) 0.99
The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology (2009) 0.97
IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients. Autism Res Treat (2012) 0.97
Features of autism in Rett syndrome and severe mental retardation. J Autism Dev Disord (2003) 0.96
Gross motor profile in rett syndrome as determined by video analysis. Neuropediatrics (2009) 0.95
The diagnosis of autism in a female: could it be Rett syndrome? Eur J Pediatr (2007) 0.94
Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome. PLoS One (2013) 0.89
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform. Neurogenetics (2008) 0.89
Case report: Retracing atypical development: a preserved speech variant of Rett syndrome. J Autism Dev Disord (2009) 0.86
Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Dev Med Child Neurol (2010) 0.86
Inflammatory lung disease in Rett syndrome. Mediators Inflamm (2014) 0.82
Habituation without NMDA Receptor-Dependent Desensitization of Hering-Breuer Apnea Reflex in a Mecp2 Mutant Mouse Model of Rett Syndrome. Front Integr Neurosci (2011) 0.81
The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population. Res Autism Spectr Disord (2011) 0.81
Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome. JIMD Rep (2011) 0.78
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. Am J Med Genet A (2016) 0.78
Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1). Autism Res Treat (2016) 0.77
Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opin Orphan Drugs (2016) 0.76
Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature. J Pediatr Neurosci (2015) 0.75
Rett syndrome: a wide clinical and autonomic picture. Orphanet J Rare Dis (2016) 0.75
Guidelines for reporting clinical features in cases with MECP2 mutations, by Allison Kerr and an international group. Brain Dev (2001) 0.75
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. Science (1985) 9.12
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature (1986) 7.90
Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J (1987) 7.32
Endoscopic assessment of oesophagitis: clinical and functional correlates and further validation of the Los Angeles classification. Gut (1999) 7.14
Mycobacterium avium complex infections in patients with the acquired immunodeficiency syndrome. Ann Intern Med (1986) 6.79
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature (1999) 6.42
Effect of a general practitioner's consulting style on patients' satisfaction: a controlled study. BMJ (1990) 6.15
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell (1996) 5.67
The consultant episode: an unhelpful measure. BMJ (1992) 5.35
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33
Infections caused by Mycobacterium avium complex in immunocompromised patients: diagnosis by blood culture and fecal examination, antimicrobial susceptibility tests, and morphological and seroagglutination characteristics. J Clin Microbiol (1985) 5.22
Referral to hospital: perceptions of patients, general practitioners and consultants about necessity and suitability of referral. Fam Pract (1987) 5.11
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
COSMIC 2005. Br J Cancer (2006) 5.07
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron (1998) 4.92
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A (1987) 4.61
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature (1992) 4.44
Comparison of criteria derived by government and patients for evaluating general practitioner services. BMJ (1989) 4.36
Fungemia in the immunocompromised host. Changing patterns, antigenemia, high mortality. Am J Med (1981) 4.31
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science (1985) 4.29
Mapping of transforming growth factor alpha gene on human chromosome 2 close to the breakpoint of the Burkitt's lymphoma t(2;8) variant translocation. Cancer Res (1985) 4.17
NuA4, an essential transcription adaptor/histone H4 acetyltransferase complex containing Esa1p and the ATM-related cofactor Tra1p. EMBO J (1999) 4.14
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
The genetic testing of children. Working Party of the Clinical Genetics Society (UK) J Med Genet (1994) 4.12
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell (1994) 4.04
Treatment of infections in patients with the acquired immunodeficiency syndrome. Ann Intern Med (1985) 4.02
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Am J Hum Genet (1985) 4.01
Fungemia in a cancer hospital: changing frequency, earlier onset, and results of therapy. Rev Infect Dis (1985) 4.00
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90
Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol (1996) 3.89
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature (1998) 3.86
Fission yeast cut3 and cut14, members of a ubiquitous protein family, are required for chromosome condensation and segregation in mitosis. EMBO J (1994) 3.83
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
Aspergillosis complicating neoplastic disease. Am J Med (1973) 3.80
Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet (1989) 3.74
Implementing evidence based medicine in general practice: audit and qualitative study of antithrombotic treatment for atrial fibrillation. BMJ (1999) 3.62
Mortality in systemic lupus erythematosus. Arthritis Rheum (2006) 3.61
Consecutive inactivation of both alleles of the pim-1 proto-oncogene by homologous recombination in embryonic stem cells. Nature (1990) 3.57
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Science (1987) 3.47
An evidence-based approach to the management of uninvestigated dyspepsia in the era of Helicobacter pylori. Canadian Dyspepsia Working Group. CMAJ (2000) 3.45
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test (1999) 3.42
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet (1994) 3.39
An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins. Nature (1987) 3.33
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat Genet (1997) 3.32
Efficient purchasing. BMJ (1993) 3.31
Human immunity to Pseudomonas aeruginosa. I. In-vitro interaction of bacteria, polymorphonuclear leukocytes, and serum factors. J Infect Dis (1972) 3.28
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin. EMBO J (1988) 3.26
Megestrol acetate in patients with AIDS-related cachexia. Ann Intern Med (1994) 3.25
Prevalence of fragile X syndrome. Am J Med Genet (1996) 3.19
Continuous high-grade mycobacterium avium-intracellulare bacteremia in patients with the acquired immune deficiency syndrome. Am J Med (1985) 3.19
Reasons for referral to hospital: extent of agreement between the perceptions of patients, general practitioners and consultants. Fam Pract (1986) 3.14
Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes. Hum Genet (1978) 3.13
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A (1982) 3.11
Comparative recovery of bacteria and yeasts from lysis-centrifugation and a conventional blood culture system. J Clin Microbiol (1983) 3.09
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet (1996) 3.07
Activity of voriconazole (UK-109,496) against clinical isolates of Aspergillus species and its effectiveness in an experimental model of invasive pulmonary aspergillosis. Antimicrob Agents Chemother (1997) 3.06
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet (2001) 3.05
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics (1978) 3.04
A reevaluation of cancer incidence near the Three Mile Island nuclear plant: the collision of evidence and assumptions. Environ Health Perspect (1997) 3.04
Investigation of burnout in a sample of British general practitioners. Br J Gen Pract (1995) 3.03
Yeast SAS silencing genes and human genes associated with AML and HIV-1 Tat interactions are homologous with acetyltransferases. Nat Genet (1996) 3.02
Measuring readmission rates. BMJ (1990) 3.01
Intraorbital wood. Detection by magnetic resonance imaging. Ophthalmology (1990) 2.99
Should we test children for "adult" genetic diseases? Lancet (1990) 2.97
Bacteremia and fungemia complicating neoplastic disease. A study of 364 cases. Am J Med (1977) 2.92
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
Measuring general practitioner referrals: patient, workload and list size effects. J R Coll Gen Pract (1988) 2.91
A system of nomenclature for band patterns of mouse chromosomes. Chromosoma (1973) 2.87
The prevalence of clinically significant endoscopic findings in primary care patients with uninvestigated dyspepsia: the Canadian Adult Dyspepsia Empiric Treatment - Prompt Endoscopy (CADET-PE) study. Aliment Pharmacol Ther (2003) 2.83
Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet (1984) 2.82
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Science (1985) 2.80
Bronchoalveolar lavage in the diagnosis of diffuse pulmonary infiltrates in the immunosuppressed host. Ann Intern Med (1984) 2.80
Diagnostic accuracy of oropharyngeal cultures in infants and young children with cystic fibrosis. Pediatr Pulmonol (1999) 2.73
Species identification of coagulase-negative staphylococcal isolates from blood cultures. J Clin Microbiol (1982) 2.71
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem (1991) 2.70
Preferences of healthy and ill patients for style of general practitioner care: implications for workload and financial incentives under the new contract. Br J Gen Pract (1991) 2.66
Telephone consultations in general practice: an additional or alternative service? Br J Gen Pract (1995) 2.62
Low-temperature, high-performance solution-processed metal oxide thin-film transistors formed by a ‘sol–gel on chip’ process. Nat Mater (2011) 2.61
Tobramycin (nebramycin factor 6): in vitro activity against Pseudomonas aeruginosa. Appl Microbiol (1971) 2.60
Guidelines, enthusiasms, uncertainty, and the limits to purchasing. BMJ (1995) 2.59
Minimally invasive treatment of malignant hepatic tumors: at the threshold of a major breakthrough. Radiographics (2000) 2.59
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res (1987) 2.57
Septicemia due to Aeromonas hydrophila: clinical and immunologic aspects. J Infect Dis (1973) 2.55
Oxidative damage to DNA in diabetes mellitus. Lancet (1996) 2.54
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Serologic responses to Pneumocystis carinii antigens in health and disease. J Infect Dis (1990) 2.51
Patients' responses to risk information about the benefits of treating hypertension. Br J Gen Pract (2001) 2.50
Patients' views of priority setting in health care: an interview survey in one practice. BMJ (1995) 2.50
Structure and functional expression of the human macrophage inflammatory protein 1 alpha/RANTES receptor. J Exp Med (1993) 2.49
Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line. Somat Cell Mol Genet (1987) 2.48
Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology (2004) 2.48
Voltage-activated calcium channels that must be phosphorylated to respond to membrane depolarization. Proc Natl Acad Sci U S A (1987) 2.48
High prevalence of anti-hepatitis B virus serological markers in patients with hepatitis C virus related chronic liver disease in Japan. Gut (1999) 2.46
Ecto-enzyme and signaling functions of lymphocyte CD73. Immunol Rev (1998) 2.46