PubRank

M G Butler

Author PubWeight™ 131.03‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993 4.86
2 Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 1989 4.72
3 Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 1986 2.66
4 Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 1993 2.02
5 Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 1999 1.93
6 Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1983 1.82
7 The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. N Engl J Med 1992 1.78
8 Obese children show hyperactivation to food pictures in brain networks linked to motivation, reward and cognitive control. Int J Obes (Lond) 2010 1.75
9 Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Hum Mol Genet 1996 1.70
10 Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet 1993 1.68
11 Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir Crit Care Med 1995 1.60
12 Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. J Med Genet 2006 1.54
13 Molecular cytogenetics of Prader-Willi and Angelman syndromes. Lancet 1991 1.40
14 Trisomy 18 mosaicism in a 24-year-old white woman with normal intelligence and skeletal abnormalities. Am J Med Genet 1994 1.39
15 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
16 New marker of B lymphocytes, MB2: comparison with other lymphocyte subset markers active in conventionally processed tissue sections. J Clin Pathol 1987 1.30
17 Comparison of X-chromosome inactivation patterns in multiple tissues from human females. J Med Genet 2007 1.25
18 Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? Am J Med Genet 1987 1.23
19 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
20 Rapid technique of DNA-DNA in situ hybridisation on formalin fixed tissue sections using microwave irradiation. J Clin Pathol 1987 1.17
21 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
22 Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res 2000 1.12
23 Meniscal ossicle: radiographic and MR imaging findings. Radiology 1995 1.12
24 Intercontinental karyotypic differentiation of Chironomus entis Shobanov, a Holarctic member of the C. plumosus group (Diptera, Chironomidae). Genome 2000 1.09
25 Importance of reward and prefrontal circuitry in hunger and satiety: Prader-Willi syndrome vs simple obesity. Int J Obes (Lond) 2011 1.07
26 A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. Am J Med Genet 1987 1.07
27 Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome. Clin Genet 1982 1.07
28 Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. Int J Obes (Lond) 2008 1.05
29 No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD). J Med Genet 2002 1.04
30 Brief report: non-random X chromosome inactivation in females with autism. J Autism Dev Disord 2005 1.04
31 Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. J Med Genet 2003 1.04
32 Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet 1996 1.04
33 Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res 2009 1.03
34 The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome. J Intellect Disabil Res 2007 1.03
35 Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations. Am J Ment Retard 1999 1.02
36 A new method of hydrolysis for the identification of acid glycoprotein. Med Lab Technol 1973 0.97
37 Adenovirus keratitis: a role for interleukin-8. Invest Ophthalmol Vis Sci 2000 0.96
38 An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 1987 0.96
39 Distribution and characterisation of immunoreactive somatostatin in human gastrointestinal tract. Regul Pept 1983 0.95
40 Telomere reduction in giant cell tumor of bone and with aging. Cancer Genet Cytogenet 1993 0.94
41 Acetone/periodate-lysine-paraformaldehyde (PLP) fixation and improved morphology of cryostat sections for immunohistochemistry. Histopathology 1987 0.94
42 Circulating adiponectin levels, body composition and obesity-related variables in Prader-Willi syndrome: comparison with obese subjects. Int J Obes (Lond) 2006 0.93
43 Paternal hydrocarbon exposure in Prader-Willi syndrome. Lancet 1987 0.93
44 Robinow syndrome: report of two patients and review of literature. Clin Genet 1987 0.93
45 Increased frequency of sister-chromatid exchanges in alcoholics. Mutat Res 1981 0.92
46 The extracellular matrix of reparative tissue in the vitreous: fibronectin production in proliferative diabetic retinopathy membranes. Eye (Lond) 1993 0.92
47 Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region. J Med Genet 2002 0.91
48 Plasma cytokine levels in children with autistic disorder and unrelated siblings. Int J Dev Neurosci 2011 0.90
49 Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome. Ment Retard Dev Disabil Res Rev 2000 0.90
50 Global DNA promoter methylation in frontal cortex of alcoholics and controls. Gene 2012 0.89
51 Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects. Am J Med Genet 1998 0.89
52 Insulin resistance and obesity-related factors in Prader-Willi syndrome: comparison with obese subjects. Clin Genet 2005 0.88
53 Five new subjects with ring chromosome 22. Clin Genet 2003 0.88
54 Emergence of compulsive behavior and tantrums in children with Prader-Willi syndrome. Am J Ment Retard 2001 0.87
55 Local production of fibronectin by ectopic human retinal cells. Cell Tissue Res 1992 0.87
56 Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome. A follow-up report on 38 cases. Clin Genet 1985 0.87
57 Microsatellite instability in sarcomas. Ann Surg Oncol 1998 0.87
58 Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father. Clin Dysmorphol 2001 0.86
59 Demonstration of lymphoid antigens in decalcified bone marrow trephines. J Clin Pathol 1987 0.86
60 Focal sclerosing glomerulonephritis in a child with Laurence-Moon-Biedl syndrome. Child Nephrol Urol 1990 0.86
61 Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome. J Neuropsychiatry Clin Neurosci 1997 0.86
62 Hereditary lymphedema and distichiasis. Arch Ophthalmol 1991 0.86
63 The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion. Chest 1997 0.86
64 Clonality studies in giant cell tumor of bone. J Orthop Res 2002 0.86
65 Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q. Am J Hum Genet 1989 0.85
66 Keratan sulphate in rheumatoid arthritis, osteoarthritis, and inflammatory diseases. Ann Rheum Dis 1992 0.84
67 Metacarpophalangeal pattern profile analysis in Williams syndrome. Am J Med Genet 1993 0.84
68 Telomerase activity and oncogenesis in giant cell tumor of bone. Cancer 1995 0.84
69 Development and validation of a measurement system for assessment of energy expenditure and physical activity in Prader-Willi syndrome. Obes Res 1999 0.84
70 Identification of immunoreactive atrial natriuretic peptide in atrial amyloid. J Clin Pathol 1986 0.84
71 Cytogenetic studies of individuals from four kindreds with multiple endocrine neoplasia type II syndrome. Cancer Genet Cytogenet 1987 0.84
72 Isolated atrial amyloid contains atrial natriuretic peptide: a report of six cases. Br Heart J 1986 0.84
73 The developing role of anthropologists in medical genetics: anthropometric assessment of the Prader-Labhart-Willi syndrome as an illustration. Med Anthropol 1989 0.84
74 Critical analysis of bariatric procedures in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr 2008 0.84
75 Over-expression of the miRNA cluster at chromosome 14q32 in the alcoholic brain correlates with suppression of predicted target mRNA required for oligodendrocyte proliferation. Gene 2013 0.83
76 Metacarpophalangeal pattern profile analysis in Sotos syndrome. Am J Med Genet 1985 0.83
77 A longitudinal study of nutritional intake in men. J Gerontol 1983 0.83
78 Telomerase activity in skeletal sarcomas. Ann Surg Oncol 1999 0.82
79 Localisation of fibronectin mRNA in the rheumatoid synovium by in situ hybridisation. Ann Rheum Dis 1992 0.81
80 The latent variable structure of the Compulsive Behaviour Checklist in people with Prader-Willi syndrome. J Intellect Disabil Res 1998 0.81
81 Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence? J Med Genet 1996 0.81
82 Microsatellite instability in malignant melanoma. Cancer Genet Cytogenet 1998 0.81
83 Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method. Am J Phys Anthropol 1986 0.80
84 Visual capacity and Prader-Willi syndrome. J Pediatr Ophthalmol Strabismus 2000 0.80
85 Renal and urinary tract abnormalities associated with chromosome aberrations. Int J Pediatr Nephrol 1988 0.80
86 Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities. Genet Med 2001 0.80
87 How common is precocious puberty in patients with Williams syndrome? Clin Dysmorphol 1997 0.80
88 Microsatellite instability in sacral chordoma. J Surg Oncol 2000 0.80
89 Survey of mentally retarded males for cutis verticis gyrata and chromosomal fragile sites. Am J Med Genet 1992 0.79
90 Kinetic form discrimination in Prader-Willi syndrome. J Intellect Disabil Res 2001 0.79
91 Omphalocele in three generations with autosomal dominant transmission. J Med Genet 2002 0.79
92 Screen for MAOA mutations in target human groups. Am J Med Genet 1999 0.79
93 High resolution chromosome and DNA analysis in multiple endocrine neoplasia type II syndrome. Cancer Genet Cytogenet 1987 0.79
94 Dermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings. Clin Genet 1984 0.79
95 Prader-Willi syndrome: are there population differences? Clin Genet 1982 0.79
96 Telomeric associations and consistent growth factor overexpression detected in giant cell tumor of bone. Cancer Genet Cytogenet 1991 0.79
97 Molecular genetic screening in cytogenetically normal mentally retarded males with manifestations of fragile X syndrome. Am J Med Genet 1994 0.78
98 Antley-Bixler syndrome: report of a patient and review of literature. Clin Genet 1994 0.78
99 Trisomy 17 detected in amniotic fluid cells but not in newborn infant. Am J Med Genet 1996 0.78
100 Extensive analysis of mosaicism in a case of Turner syndrome: the experience of 287 cytogenetic laboratories. College of American Pathologists/American College of Medical Genetics Cytogenetics Resource Committee. Arch Pathol Lab Med 1999 0.78
101 Steroid metabolic disturbances in Prader-Willi syndrome. Am J Med Genet 1987 0.78
102 Trisomy 17 mosaicism in a four-year seven-month-old white girl: follow-up report. Prenat Diagn 1999 0.78
103 Antibodies to cardiolipin and intermediate filaments: a study of autoimmunity in rheumatoid arthritis. Clin Rheumatol 1990 0.77
104 Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array. Am J Med Genet A 2008 0.77
105 Chromosome breakage in control and fragile X subjects using folate-deficient culture conditions. Hum Genet 1988 0.77
106 Marshall-Smith syndrome: case report of a newborn male and review of the literature. Clin Dysmorphol 1999 0.77
107 Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns. Am J Med Genet 1996 0.77
108 Photoanthropometric study of craniofacial traits in individuals with Williams syndrome. Clin Genet 1997 0.77
109 Birth seasonality in Prader-Willi syndrome. Lancet 1985 0.77
110 Cytokeratin and laminin immunostaining in the diagnosis of cutaneous neuro-endocrine (Merkel cell) tumours. Histopathology 1986 0.77
111 Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases. Diagn Mol Pathol 1995 0.77
112 Fibronectin synthesis in subretinal membranes of proliferative vitreoretinopathy. Br J Ophthalmol 1992 0.77
113 Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome). Am J Med Genet 1984 0.76
114 High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome. Am J Med Genet 1995 0.76
115 A unique Y/Y translocation in an infertile male. Cytogenet Cell Genet 1981 0.76
116 Lack of microsatellite instability in giant cell tumor of bone. Cancer Genet Cytogenet 1996 0.76
117 A possible etiology of the infertile 46XX male subject. J Urol 1983 0.76
118 Clear cell sarcoma or malignant melanoma of soft parts: molecular analysis of microsatellite instability with clinical correlation. Cancer Genet Cytogenet 1998 0.76
119 Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy. J Pediatr 2000 0.76
120 Cryptophthalmos with an orbital cyst and profound mental and motor retardation. J Pediatr Ophthalmol Strabismus 1979 0.76
121 Plasma leptin concentrations in lean and obese human subjects and Prader-Willi syndrome: comparison of RIA and ELISA methods. J Lab Clin Med 1999 0.76
122 A 68-year-old white female with Prader-Willi syndrome. Clin Dysmorphol 2000 0.76
123 SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature. Am J Med Genet 2000 0.75
124 Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies. Am J Med Genet 1995 0.75
125 Sister-chromatid exchange in 4 human races. Mutat Res 1981 0.75
126 A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe. Fertil Steril 1986 0.75
127 Robertsonian translocations in Paget's disease of bone. J Orthop Res 1997 0.75
128 Chromosome fragile sites in mentally retarded males: increased incidence with seizures and diphenylhydantoin therapy. Ann Clin Lab Sci 1998 0.75
129 A measure of food seeking in individuals with Prader-Willi syndrome. J Intellect Disabil Res 2006 0.75
130 Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients? Am J Med Genet 1994 0.75
131 Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome. J Gastroenterol 1998 0.75
132 Pilot studies for proficiency testing using fluorescence in situ hybridization with chromosome-specific DNA probes: a College of American Pathologists/American College of Medical Genetics Program. Arch Pathol Lab Med 1997 0.75
133 Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. Am J Med Genet 1998 0.75
134 Sister chromatid exchange analysis in a 61 year-old female using various medications. Nebr Med J 1981 0.75
135 A case of Turner's syndrome, with apparently normal sex chromatin and chromosome findings. Nebr Med J 1979 0.75
136 Beta3-adrenergic receptor gene studies in patients with Prader-Willi syndrome. Am J Med Genet 1997 0.75
137 Additional evidence for X-Y chromosome interchange in a 46,XX male. Nebr Med J 1980 0.75
138 Metacarpophalangeal pattern profile analysis in Sotos syndrome: an update. Am J Med Genet 1986 0.75
139 Brief clinical report: prune belly syndrome in an anencephalic male. Am J Med Genet 1983 0.75
140 Plastic embedding of bone marrow biopsies. Histopathology 1987 0.75
141 Analysis of 13q RFLP in multiple endocrine neoplasia type II kindreds. Cancer Genet Cytogenet 1987 0.75
142 Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome. Hum Genet 1996 0.75
143 Dosage and allelic restriction fragment studies and PCR analysis of the H-ras locus in giant cell tumor of bone. Cancer Genet Cytogenet 1994 0.75
144 Genetic conditions among patients receiving genetic services in middle Tennessee. South Med J 1993 0.75
145 Craniofacial variation and growth in the Prader-Labhart-Willi syndrome. Am J Phys Anthropol 1987 0.75
146 Central nervous system toxicity of high-dose cytosine arabinoside. Semin Oncol 1985 0.75
147 Urticaria pigmentosa in a child with Prader-Labhart-Willi syndrome. J Am Acad Dermatol 1989 0.75
148 Analysis of immunoglobulin heavy chain restriction fragment length polymorphisms in IgA nephropathy. Semin Nephrol 1987 0.75
149 Cytogenetic abnormalities in a rare case of giant cell osteogenic sarcoma. Cancer Genet Cytogenet 1992 0.75
150 Reliability of ultrasound in the prenatal diagnosis of urinary tract abnormalities. Pediatr Nephrol 1991 0.75
151 Metacarpophalangeal pattern profile analysis in Robinow syndrome. Am J Med Genet 1987 0.75
152 Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence? Am J Med Genet 1997 0.75
153 Brief clinical report: a child with radius aplasia, cleft of lip and palate, microcephaly, and unusual chromosome findings. Am J Med Genet 1982 0.75
154 Metaphase chromosome folds and X-inactivation. Am J Med Genet 1987 0.75