Published in Clin Genet on December 01, 1982
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Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet (1983) 1.82
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The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. N Engl J Med (1992) 1.78
The VATER association. Analysis of 46 patients. Am J Dis Child (1986) 1.78
Volume of blood submitted for culture from neonates. J Clin Microbiol (1986) 1.77
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Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir Crit Care Med (1995) 1.60
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. J Med Genet (2006) 1.54
Neutrophil storage pool depletion in neonates with sepsis and neutropenia. J Pediatr (1988) 1.49
Effectiveness of enteric coated pancreatic enzymes given before meals in reducing steatorrhea in children with cystic fibrosis. J Am Diet Assoc (1992) 1.46
In vivo measurement of bone mass in the radius. Metabolism (1968) 1.46
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Molecular cytogenetics of Prader-Willi and Angelman syndromes. Lancet (1991) 1.40
Trisomy 18 mosaicism in a 24-year-old white woman with normal intelligence and skeletal abnormalities. Am J Med Genet (1994) 1.39
Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5. Am J Hum Genet (1989) 1.34
Heritability of bone mass: a longitudinal study in aging male twins. Am J Hum Genet (1989) 1.32
New marker of B lymphocytes, MB2: comparison with other lymphocyte subset markers active in conventionally processed tissue sections. J Clin Pathol (1987) 1.30
Non-random maternal X-chromosome inactivation associated with PHACES. Clin Genet (2007) 1.28
In vivo measurement of bone mass. Its use in demineralized states such as osteoporosis. JAMA (1972) 1.26
Comparison of X-chromosome inactivation patterns in multiple tissues from human females. J Med Genet (2007) 1.25
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? Am J Med Genet (1987) 1.23
An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet (1991) 1.23
Rapid technique of DNA-DNA in situ hybridisation on formalin fixed tissue sections using microwave irradiation. J Clin Pathol (1987) 1.17
Menkes disease mutations and response to early copper histidine treatment. Nat Genet (1996) 1.17
Spectrum of EEG findings in Menkes disease. Electroencephalogr Clin Neurophysiol (1993) 1.16
Insulin immunoassay by back-titration using alcohol precipitation of insulin-antibody complexes. Diabetes (1969) 1.16
Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics (1991) 1.15
Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet (1997) 1.15
Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res (2000) 1.12
Meniscal ossicle: radiographic and MR imaging findings. Radiology (1995) 1.12
Intercontinental karyotypic differentiation of Chironomus entis Shobanov, a Holarctic member of the C. plumosus group (Diptera, Chironomidae). Genome (2000) 1.09
Importance of reward and prefrontal circuitry in hunger and satiety: Prader-Willi syndrome vs simple obesity. Int J Obes (Lond) (2011) 1.07
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. Clin Genet (2005) 1.07
A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. Am J Med Genet (1987) 1.07
Twin study: relationship between birth weight, zygosity, placentation, and pathologic placental changes. Acta Genet Med Gemellol (Roma) (1988) 1.06
Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. Int J Obes (Lond) (2008) 1.05
Hypertrichosis and congenital anomalies associated with maternal use of minoxidil. Pediatrics (1987) 1.05
Brief report: non-random X chromosome inactivation in females with autism. J Autism Dev Disord (2005) 1.04
No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD). J Med Genet (2002) 1.04
Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. J Med Genet (2003) 1.04
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet (1996) 1.04
The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome. J Intellect Disabil Res (2007) 1.03
Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res (2009) 1.03
Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations. Am J Ment Retard (1999) 1.02
Cystic fibrosis: population genetics. Tex Rep Biol Med (1973) 1.02
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Clin Genet (2011) 1.02
Linkage relationships and multipoint mapping of the human parotid salivary proteins (Pr, Pa, Db). Am J Hum Genet (1980) 1.00
Linkage group I: a statistically significant locus order from family studies. Cytogenet Cell Genet (1978) 0.99
A new method of hydrolysis for the identification of acid glycoprotein. Med Lab Technol (1973) 0.97
Genetic analysis of a lactococcal plasmid replicon. Mol Gen Genet (1991) 0.97
An anthropometric assessment of Huntington's disease patients and families. Am J Phys Anthropol (1985) 0.96
An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet (1987) 0.96
Construction of a family of lactococcal vectors for gene cloning and translational fusion. FEMS Microbiol Lett (1991) 0.96
Adenovirus keratitis: a role for interleukin-8. Invest Ophthalmol Vis Sci (2000) 0.96
Studies of the inheritance of idiopathic talipes equinovarus. Orthop Clin North Am (1974) 0.96
Solid-substrate fermentation ofKloeckera apiculata andCandida utilis on apple pomace to produce an improved stock-feed. World J Microbiol Biotechnol (1995) 0.96
Reduced stroke volume related to pleural pressure in obstructive sleep apnea. J Appl Physiol Respir Environ Exerc Physiol (1983) 0.95
Anthropometric discrimination among affected, at-risk, and not-at-risk individuals in families with Huntington disease. Am J Med Genet (1985) 0.95
Triacylglycerol contents and in vivo lipogenesis of ob/ob, db/db and Avy/a mice. Biochim Biophys Acta (1976) 0.95
Distribution and characterisation of immunoreactive somatostatin in human gastrointestinal tract. Regul Pept (1983) 0.95
Genetic polymorphisms of Pe and Po salivary proteins with probable linkage of their genes to the salivary protein gene complex (SPC). Biochem Genet (1984) 0.94
Telomere reduction in giant cell tumor of bone and with aging. Cancer Genet Cytogenet (1993) 0.94
Acetone/periodate-lysine-paraformaldehyde (PLP) fixation and improved morphology of cryostat sections for immunohistochemistry. Histopathology (1987) 0.94
Circulating adiponectin levels, body composition and obesity-related variables in Prader-Willi syndrome: comparison with obese subjects. Int J Obes (Lond) (2006) 0.93
Paternal hydrocarbon exposure in Prader-Willi syndrome. Lancet (1987) 0.93
Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab (2010) 0.93
Robinow syndrome: report of two patients and review of literature. Clin Genet (1987) 0.93
Increased frequency of sister-chromatid exchanges in alcoholics. Mutat Res (1981) 0.92
The extracellular matrix of reparative tissue in the vitreous: fibronectin production in proliferative diabetic retinopathy membranes. Eye (Lond) (1993) 0.92
An analysis of the relationships among obesity, plasma insulin and hepatic lipogenic enzymes in "viable yellow obese" mice (Avy/a). Horm Metab Res (1976) 0.92
Magnetic resonance imaging. Clinical correlation in 64 patients with multiple sclerosis. Arch Neurol (1986) 0.91
[Studies on analogs of artemisinine. I. The synthesis of ethers, carboxylic esters and carbonates of dihydroartemisinine (author's transl)]. Yao Xue Xue Bao (1981) 0.91
Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region. J Med Genet (2002) 0.91
Plasma cholesterol variation in the National Heart, Lung and Blood Institute Twin Study. Genet Epidemiol (1987) 0.91
Clinical anthropometry and medical genetics: a compilation of body measurements in genetic and congenital disorders. Am J Med Genet (1986) 0.90
Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome. Ment Retard Dev Disabil Res Rev (2000) 0.90
Plasma cytokine levels in children with autistic disorder and unrelated siblings. Int J Dev Neurosci (2011) 0.90
Human parotid proline-rich proteins: correlation of genetic polymorphisms to dental caries. Genet Epidemiol (1986) 0.90
Swallowing dysfunction in nephropathic cystinosis. N Engl J Med (1990) 0.90
Lack of improved growth outcome related to nonnutritive sucking in very low birth weight premature infants fed a controlled nutrient intake: a randomized prospective study. Pediatrics (1989) 0.89
Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects. Am J Med Genet (1998) 0.89
Evidence of genetic influence on central body fat in middle-aged twins. Hum Biol (1989) 0.89
Global DNA promoter methylation in frontal cortex of alcoholics and controls. Gene (2012) 0.89
Synthesis of 1,N2-(1,3-propano)-2'-deoxyguanosine and incorporation into oligodeoxynucleotides: a model for exocyclic acrolein-DNA adducts. Chem Res Toxicol (1991) 0.89
Genetic polymorphism of CON 1 and CON 2 salivary proteins detected by immunologic and concanavalin A reactions on nitrocellulose with linkage of CON 1 and CON 2 genes to the SPC (salivary protein gene complex). Biochem Genet (1984) 0.89
Insulin resistance and obesity-related factors in Prader-Willi syndrome: comparison with obese subjects. Clin Genet (2005) 0.88
Five new subjects with ring chromosome 22. Clin Genet (2003) 0.88
Sympathetic nerve activity and blood pressure in normotensive backcross rats genetically related to the spontaneously hypertensive rat. Hypertension (1980) 0.88
Emergence of compulsive behavior and tantrums in children with Prader-Willi syndrome. Am J Ment Retard (2001) 0.87