Published in J Med Genet on July 06, 2006
Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling. J Clin Oncol (2011) 8.37
Ras oncogenes: split personalities. Nat Rev Mol Cell Biol (2008) 7.91
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
Mitogen-activated protein kinases in heart development and diseases. Circulation (2007) 1.84
Deletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function. J Neurosci (2008) 1.84
Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab (2011) 1.82
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol (2010) 1.60
Targeting BRAF for patients with melanoma. Br J Cancer (2010) 1.56
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann N Y Acad Sci (2010) 1.54
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat (2009) 1.49
MAP'ing CNS development and cognition: an ERKsome process. Neuron (2009) 1.49
Ras and Rap signaling in synaptic plasticity and mental disorders. Neuroscientist (2010) 1.29
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet (2009) 1.22
Costello syndrome: clinical diagnosis in the first year of life. Eur J Pediatr (2007) 1.21
Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome. Proc Natl Acad Sci U S A (2008) 1.21
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. J Med Genet (2007) 1.18
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet (2014) 1.15
Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet (2009) 1.12
RASopathies: Clinical Diagnosis in the First Year of Life. Mol Syndromol (2011) 1.07
Loss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defects. Arterioscler Thromb Vasc Biol (2010) 1.05
Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome. Proc Natl Acad Sci U S A (2011) 1.02
EGFR-ras-raf signaling in epidermal stem cells: roles in hair follicle development, regeneration, tissue remodeling and epidermal cancers. Int J Mol Sci (2013) 1.02
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. J Med Genet (2007) 1.02
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics (2014) 1.01
What's new in the neuro-cardio-facial-cutaneous syndromes? Eur J Pediatr (2007) 0.99
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med (2008) 0.98
Activated Kras alters epidermal homeostasis of mouse skin, resulting in redundant skin and defective hair cycling. J Invest Dermatol (2010) 0.97
The molecular genetics of congenital heart disease: a review of recent developments. Curr Opin Cardiol (2010) 0.96
Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish. Dis Model Mech (2012) 0.96
Madarosis: a marker of many maladies. Int J Trichology (2012) 0.94
Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development. Am J Hum Genet (2008) 0.93
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. Eur J Hum Genet (2013) 0.92
Association between Noonan syndrome and Chiari I malformation: a case-based update. Childs Nerv Syst (2012) 0.91
New Genetic Insights into Congenital Heart Disease. J Clin Exp Cardiolog (2012) 0.89
Fibroblast growth factor signaling in mammalian tooth development. Odontology (2013) 0.88
Cardiofaciocutaneous syndrome: a rare entity. Indian J Dermatol (2012) 0.83
Negative regulation of Shh levels by Kras and Fgfr2 during hair follicle development. Dev Biol (2012) 0.83
Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol (2015) 0.82
BRAF gene: From human cancers to developmental syndromes. Saudi J Biol Sci (2014) 0.81
MicroRNAs: a new piece in the paediatric cardiovascular disease puzzle. Cardiol Young (2013) 0.80
Fate and plasticity of the epidermis in response to congenital activation of BRAF. J Invest Dermatol (2014) 0.79
Disruption of the ERK/MAPK pathway in neural crest cells as a potential cause of Pierre Robin sequence. Development (2015) 0.79
Lymphatic vessel abnormalities arising from disorders of Ras signal transduction. Trends Cardiovasc Med (2013) 0.78
Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy. PLoS One (2016) 0.77
Cell type-dependent Erk-Akt pathway crosstalk regulates the proliferation of fetal neural progenitor cells. Sci Rep (2016) 0.77
CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes. Cardiol Young (2015) 0.76
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. BMJ Case Rep (2009) 0.76
RAS and downstream RAF-MEK and PI3K-AKT signaling in neuronal development, function and dysfunction. Biol Chem (2016) 0.75
Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses. Indian Dermatol Online J (2016) 0.75
Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia. J Clin Res Pediatr Endocrinol (2014) 0.75
Tegumentary manifestations of Noonan and Noonan-related syndromes. Clinics (Sao Paulo) (2013) 0.75
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. Mol Syndromol (2013) 0.75
Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder. J Clin Diagn Res (2016) 0.75
Clinical and Molecular Findings of Tunisian Patients with RASopathies. Mol Syndromol (2014) 0.75
Ross operation in a neuro-cardio-facial-cutaneous syndrome patient. Indian J Hum Genet (2011) 0.75
MicroRNAs in congenital heart disease. Ann Transl Med (2015) 0.75
Genetic aspects of birth defects: new understandings of old problems. Arch Dis Child Fetal Neonatal Ed (2007) 0.75
Genotype and phenotype spectrum of NRAS germline variants. Eur J Hum Genet (2017) 0.75
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet (2003) 5.16
Germline KRAS mutations cause Noonan syndrome. Nat Genet (2006) 4.48
Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet (2005) 4.47
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell (1994) 4.47
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science (2006) 3.96
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet (2005) 3.02
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr (1999) 2.18
Stops along the RAS pathway in human genetic disease. Nat Med (2006) 2.10
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A (2006) 1.94
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet (2006) 1.80
Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause. J Pediatr (1998) 1.74
Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome. Lancet (1992) 1.72
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71
Genotype-phenotype correlations in Noonan syndrome. J Pediatr (2004) 1.70
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. Am J Med Genet (2000) 1.59
Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? Am J Med Genet (1996) 1.54
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet (2003) 1.53
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet A (2006) 1.39
CFC index for the diagnosis of cardiofaciocutaneous syndrome. Am J Med Genet (2002) 1.36
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet (2004) 1.35
Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet (2002) 1.26
A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment. J Am Coll Cardiol (1999) 1.26
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet (2003) 1.23
A Noonan-like short stature syndrome with sparse hair. J Med Genet (1986) 1.22
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A (2005) 1.19
Prenatal death in Fraser syndrome. Fetal Pediatr Pathol (2006) 1.11
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family. Eur J Hum Genet (1998) 1.03
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. Eur J Pediatr (2005) 1.03
Cardiac disease in Costello syndrome. Pediatrics (1998) 0.98
Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. Clin Genet (1997) 0.97
Cardiac findings in 31 patients with Noonan's syndrome. Arq Bras Cardiol (2000) 0.96
Myocardial disarray in Noonan syndrome. Br Heart J (1992) 0.95
The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same? Am J Med Genet (1991) 0.94
CFC syndrome: a syndrome distinct from Noonan syndrome. Ann Genet (1988) 0.92
Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes. Clin Genet (2003) 0.89
Skin manifestations of cardio-facio-cutaneous syndrome. J Am Acad Dermatol (1993) 0.89
The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome? Br J Dermatol (1994) 0.89
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. J Eur Acad Dermatol Venereol (2004) 0.87
The CFC syndrome--report of the first two cases outside the United States. Am J Med Genet (1987) 0.87
The Noonan-CFC controversy. Am J Med Genet (1991) 0.86
Noonan syndrome: a clinical description emphasizing the cardiac findings. Acta Paediatr Jpn (1996) 0.86
Costello syndrome: report and review. Am J Med Genet (1999) 0.85
Cardio-facio-cutaneous syndrome: report of a case with a review of the literature. Int J Dermatol (2004) 0.85
Cardio-facio cutaneous syndrome: neurological manifestations. Clin Genet (1990) 0.84
Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation. Am J Med Genet (1996) 0.84
Cutaneous presentation of the cardio-facio-cutaneous syndrome. J Am Acad Dermatol (1990) 0.83
More on the Noonan-CFC controversy. Am J Med Genet (1996) 0.83
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome. Eur J Hum Genet (2003) 0.83
Cardio-facio-cutaneous syndrome: three additional cases and review of the literature. Am J Med Genet (1992) 0.81
Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. Clin Dysmorphol (1996) 0.81
Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome. Pediatr Radiol (2004) 0.80
No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome. Am J Med Genet A (2003) 0.80
Intestinal malrotation in a child with cardio-facio-cutaneous syndrome. Am J Med Genet (1997) 0.79
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet (2002) 0.78
The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. J Pediatr Ophthalmol Strabismus (1993) 0.78
Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children. Dev Med Child Neurol (1993) 0.78
The cardio-facio-cutaneous syndrome: a long-term follow-up of two patients, with special reference to the neurological features. Childs Nerv Syst (1997) 0.78
What syndrome is this? Cardio-facio-cutaneous (CFC) syndrome. Pediatr Dermatol (2000) 0.78
Ulerythema ophryogenes with mental retardation. Proc R Soc Med (1973) 0.77
Prospective study of the association between sleep-disordered breathing and hypertension. N Engl J Med (2000) 18.12
Molecular alterations of the AKT2 oncogene in ovarian and breast carcinomas. Int J Cancer (1995) 5.24
Longitudinal study of moderate weight change and sleep-disordered breathing. JAMA (2000) 4.86
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet (1996) 4.62
Pathophysiology of REM sleep behaviour disorder and relevance to neurodegenerative disease. Brain (2007) 3.82
Epidemiology of restless legs symptoms in adults. Arch Intern Med (2000) 3.68
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
Global gene expression profiles of Bacillus subtilis grown under anaerobic conditions. J Bacteriol (2000) 2.77
International system for human gene nomenclature (1979) ISGN (1979). Cytogenet Cell Genet (1979) 2.58
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
Further comments on the lissencephaly syndromes. Am J Med Genet (1985) 2.42
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
Noonan syndrome: a review. Am J Med Genet (1985) 2.40
Trial of vitamin A supplementation in very low birth weight infants at risk for bronchopulmonary dysplasia. J Pediatr (1992) 2.33
Quality of life four years after acute myocardial infarction: short form 36 scores compared with a normal population. Heart (1999) 2.31
A CLOCK polymorphism associated with human diurnal preference. Sleep (1998) 2.24
Enhanced production of TGF-beta by blood monocytes from patients with active tuberculosis and presence of TGF-beta in tuberculous granulomatous lung lesions. J Immunol (1995) 2.21
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Inpatient deaths from acute myocardial infarction, 1982-92: analysis of data in the Nottingham heart attack register. BMJ (1997) 2.08
Association between apolipoprotein E epsilon4 and sleep-disordered breathing in adults. JAMA (2001) 2.05
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. Proc Natl Acad Sci U S A (1999) 1.99
The causes of esophageal symptoms in human immunodeficiency virus infection. A prospective study of 110 patients. Arch Intern Med (1991) 1.95
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
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter). Am J Med Genet (1977) 1.93
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. Am J Med Genet (1993) 1.82
The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl (1986) 1.77
Public health lessons from a pilot programme to reduce mother-to-child transmission of HIV-1 in Khayelitsha. S Afr Med J (2001) 1.77
Sleep-disordered breathing and neuropsychological deficits. A population-based study. Am J Respir Crit Care Med (1997) 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
Resuscitation from out-of-hospital cardiac arrest: is survival dependent on who is available at the scene? Heart (1999) 1.76
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. Mol Biol Cell (1999) 1.73
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet (1987) 1.69
Not all chromosome imbalance resulting from the 11q;22q translocation is due to 3:1 segregation in first meiosis. Hum Genet (1989) 1.60
Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) Am J Med Genet (1992) 1.60
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000. Clin Genet (2003) 1.58
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability. Nat Genet (1999) 1.56
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet (1975) 1.56
What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes. Am J Med Genet (1996) 1.55
I-cell disease: a clinical picture. J Pediatr (1971) 1.54
Oral-facial-skeletal syndromes. Am J Med Genet (1995) 1.53
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. Hum Mol Genet (1999) 1.53
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
"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
The neurofibromatosis-Noonan syndrome. Am J Med Genet (1985) 1.49
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet (2001) 1.46
Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome. Am J Med Genet (1992) 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
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
XLMR genes: update 1996. Am J Med Genet (1996) 1.43
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
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
A cluster of equine granulomatous enteritis cases: the link with aluminium. Vet Hum Toxicol (1998) 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
Methylphenidate blood plasma levels in the horse determined by derivative gas-liquid chromatography--electron capture. J Chromatogr Sci (1974) 1.39
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? Am J Med Genet (1996) 1.39
Facial reanimation after acoustic neuroma excision: the patient's perspective. Laryngoscope (1991) 1.39
What are the information priorities for cancer patients involved in treatment decisions? An experienced surrogate study in Hodgkin's disease. Br J Cancer (1996) 1.37
Use of classical and novel biomarkers as prognostic risk factors for localised prostate cancer: a systematic review. Health Technol Assess (2009) 1.37
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser (1975) 1.36
In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum Mol Genet (1998) 1.34
Community based cancer support groups: an undervalued resource? Clin Oncol (R Coll Radiol) (1992) 1.34
Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion. Proc Natl Acad Sci U S A (1971) 1.32
The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. Am J Hum Genet (1965) 1.31
A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet (1994) 1.31
Sleep-disordered breathing and self-reported general health status in the Wisconsin Sleep Cohort Study. Sleep (1998) 1.30
XLMR genes: update 2000. Eur J Hum Genet (2001) 1.29
APOE epsilon4 is associated with obstructive sleep apnea/hypopnea: the Sleep Heart Health Study. Neurology (2004) 1.28
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. Am J Med Genet (1982) 1.27
Studies of malformation syndromes XXVA. Phenotypic and genetic studies of the Brachmann-de Lange Syndrome. Hum Hered (1971) 1.27
Morphine pharmacokinetics and pharmacodynamics in preterm and term neonates: secondary results from the NEOPAIN trial. Br J Anaesth (2008) 1.27
Developing and testing methods for deriving preference-based measures of health from condition-specific measures (and other patient-based measures of outcome). Health Technol Assess (2012) 1.26
Lethal forms of chondrodysplastic dwarfism. Pediatrics (1974) 1.26
The Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Orig Artic Ser (1975) 1.26
The Stickler syndrome. N Engl J Med (1972) 1.25
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24
Influence of ambulance crew's length of experience on the outcome of out-of-hospital cardiac arrest. Eur Heart J (1999) 1.24
Phase I and pharmacokinetic study of flavone acetic acid. Cancer Res (1987) 1.24
A new familial intrauterine growth retardation syndrome the "3-M syndrome". Eur J Pediatr (1976) 1.24
[Quality of life assessment: validation of the Italian version of the WHOQOL-Brief]. Epidemiol Psichiatr Soc (2000) 1.24
Conserved structural motifs in cyclins identified by sequence analysis. J Cell Sci (1991) 1.23
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet (1996) 1.23
Survival analysis in families affected by hereditary non-polyposis colorectal cancer. Int J Cancer (1997) 1.23
The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence. Hum Hered (1973) 1.22
Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd (1973) 1.22