PubRank

J M Friedman

Author PubWeight™ 393.32‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Positional cloning of the mouse obese gene and its human homologue. Nature 1994 38.85
2 Crystal structure at 3.5 A resolution of HIV-1 reverse transcriptase complexed with an inhibitor. Science 1992 14.70
3 Weight-reducing effects of the plasma protein encoded by the obese gene. Science 1995 13.05
4 Abnormal splicing of the leptin receptor in diabetic mice. Nature 1996 7.71
5 Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. Cell 2000 5.73
6 Leptin activation of Stat3 in the hypothalamus of wild-type and ob/ob mice but not db/db mice. Nat Genet 1996 4.84
7 Leptin-specific patterns of gene expression in white adipose tissue. Genes Dev 2000 4.57
8 Genetic and crystallographic studies of the 3',5'-exonucleolytic site of DNA polymerase I. Science 1988 4.50
9 Selective deletion of leptin receptor in neurons leads to obesity. J Clin Invest 2001 3.82
10 Physiological response to long-term peripheral and central leptin infusion in lean and obese mice. Proc Natl Acad Sci U S A 1997 3.81
11 Peroxisome proliferator-activated receptor gamma target gene encoding a novel angiopoietin-related protein associated with adipose differentiation. Mol Cell Biol 2000 3.60
12 Diagnostic criteria for schwannomatosis. Neurology 2005 3.41
13 Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet 2002 3.35
14 Increased expression in adipocytes of ob RNA in mice with lesions of the hypothalamus and with mutations at the db locus. Proc Natl Acad Sci U S A 1995 3.33
15 Acute stimulation of glucose metabolism in mice by leptin treatment. Nature 1997 3.12
16 Cocrystal structure of an editing complex of Klenow fragment with DNA. Proc Natl Acad Sci U S A 1988 3.02
17 Virus-assisted mapping of neural inputs to a feeding center in the hypothalamus. Science 2001 2.98
18 Distinct transcriptional profiles of adipogenesis in vivo and in vitro. J Biol Chem 2001 2.91
19 Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 2001 2.78
20 Structure of the binding site for nonnucleoside inhibitors of the reverse transcriptase of human immunodeficiency virus type 1. Proc Natl Acad Sci U S A 1994 2.71
21 NF1 gene and neurofibromatosis 1. Am J Epidemiol 2000 2.58
22 Anatomic localization of alternatively spliced leptin receptors (Ob-R) in mouse brain and other tissues. Proc Natl Acad Sci U S A 1997 2.57
23 Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet 2000 2.49
24 Structural basis of asymmetry in the human immunodeficiency virus type 1 reverse transcriptase heterodimer. Proc Natl Acad Sci U S A 1994 2.47
25 Crystal structures of the Klenow fragment of DNA polymerase I complexed with deoxynucleoside triphosphate and pyrophosphate. Biochemistry 1993 2.19
26 Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003 2.11
27 A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. J Med Genet 2007 1.94
28 Drug safety in pregnant women and their babies: ignorance not bliss. Clin Pharmacol Ther 2007 1.87
29 Linkage of functional and structural heterogeneity in proteins: dynamic hole burning in carboxymyoglobin. Science 1987 1.87
30 Lipoprotein lipase controls fatty acid entry into adipose tissue, but fat mass is preserved by endogenous synthesis in mice deficient in adipose tissue lipoprotein lipase. Proc Natl Acad Sci U S A 1997 1.85
31 Improving the prediction of complex diseases by testing for multiple disease-susceptibility genes. Am J Hum Genet 2003 1.85
32 Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology 2006 1.85
33 Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 2000 1.83
34 On the use of population attributable fraction to determine sample size for case-control studies of gene-environment interaction. Epidemiology 2003 1.82
35 Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000 1.79
36 Teratogenicity of recently introduced medications in human pregnancy. Obstet Gynecol 2002 1.76
37 Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data. BMC Bioinformatics 2007 1.75
38 Cellular promoters incorporated into the adenovirus genome: cell specificity of albumin and immunoglobulin expression. Mol Cell Biol 1986 1.73
39 Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 2000 1.70
40 A reevaluation of risk of in utero exposure to lithium. JAMA 1994 1.68
41 Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 2005 1.68
42 Evolving knowledge of the teratogenicity of medications in human pregnancy. Am J Med Genet C Semin Med Genet 2011 1.68
43 Epidemiology and factor analysis of obesity, type II diabetes, hypertension, and dyslipidemia (syndrome X) on the Island of Kosrae, Federated States of Micronesia. Hum Hered 2001 1.67
44 Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology 2005 1.65
45 Transcriptional and post-transcriptional control of specific messenger RNAs in adult and embryonic liver. J Mol Biol 1984 1.63
46 Improvement in stroke mortality in Canada and the United States, 1990 to 2002. Circulation 2006 1.58
47 Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology 2002 1.53
48 Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet 1990 1.53
49 Ordered water molecules as key allosteric mediators in a cooperative dimeric hemoglobin. Proc Natl Acad Sci U S A 1996 1.51
50 Update on new developments in the study of human teratogens. Teratology 2002 1.49
51 Excited state lifetimes in cytochromes measured from Raman scattering data: evidence for iron-porphyrin interactions. Proc Natl Acad Sci U S A 1977 1.48
52 Race-ethnicity differences in folic acid intake in women of childbearing age in the United States after folic acid fortification: findings from the National Health and Nutrition Examination Survey, 2001-2002. Am J Clin Nutr 2007 1.46
53 Transient Raman study of CO-haemoprotein photolysis: origin of the quantum yield. Nature 1980 1.43
54 Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility. Fertil Steril 2007 1.42
55 Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet 1999 1.40
56 Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet 2002 1.37
57 del(20p) with manifestations of arteriohepatic dysplasia. Am J Med Genet 1986 1.35
58 The iron-proximal histidine linkage and protein control of oxygen binding in hemoglobin. A transient Raman study. J Biol Chem 1983 1.35
59 Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. J Pediatr 1977 1.35
60 Site-specific PEGylation of hemoglobin at Cys-93(beta): correlation between the colligative properties of the PEGylated protein and the length of the conjugated PEG chain. Bioconjug Chem 2003 1.34
61 Expression of ob gene in adipose cells. Regulation by insulin. J Biol Chem 1996 1.31
62 Clinical, genetic, and epidemiological factors in neural tube defects. Am J Hum Genet 1988 1.31
63 Rat obesity gene fatty (fa) maps to chromosome 5: evidence for homology with the mouse gene diabetes (db). Proc Natl Acad Sci U S A 1991 1.30
64 Structure, dynamics, and reactivity in hemoglobin. Science 1985 1.29
65 Gene expression during liver regeneration. J Mol Biol 1984 1.27
66 Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). Neurology 2002 1.25
67 Protein-heme interaction in hemoglobin: evidence from Raman difference spectroscopy. Proc Natl Acad Sci U S A 1979 1.24
68 Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank. Am J Clin Nutr 2008 1.23
69 Leptin receptor activation of SH2 domain containing protein tyrosine phosphatase 2 modulates Ob receptor signal transduction. Proc Natl Acad Sci U S A 1999 1.23
70 Teratology Society Consensus Statement on use of folic acid to reduce the risk of birth defects. Teratology 1997 1.19
71 Prevalence of Coxsackie B virus antibodies in patients with juvenile dermatomyositis. Arthritis Rheum 1986 1.18
72 Angiotensin II receptor antagonist treatment during pregnancy. Birth Defects Res A Clin Mol Teratol 2005 1.17
73 Heme-heme interactions in a homodimeric cooperative hemoglobin. Evidence from transient Raman scattering. J Biol Chem 1993 1.17
74 Genetic disease in the offspring of older fathers. Obstet Gynecol 1981 1.17
75 Structural studies of Klenow fragment: an enzyme with two active sites. Cold Spring Harb Symp Quant Biol 1987 1.16
76 Relatively low plasma leptin concentrations precede weight gain in Pima Indians. Nat Med 1997 1.16
77 Molecular mapping of the mouse db mutation. Proc Natl Acad Sci U S A 1990 1.14
78 Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998. J Pediatr 2006 1.14
79 Capillary hemangioma of the maxilla. A report of two cases in which angiography and embolization were used. Oral Surg Oral Med Oral Pathol 1990 1.13
80 The human obese (OB) gene: RNA expression pattern and mapping on the physical, cytogenetic, and genetic maps of chromosome 7. Genome Res 1995 1.13
81 The alphabet of weight control. Nature 1997 1.13
82 Nanosecond transient Raman spectra of photolysed carboxyhaemoglobin. Nature 1978 1.12
83 Increased dental caries in people with neurofibromatosis 1. Clin Genet 2007 1.10
84 Autoimmunity in the relatives of patients with immunodeficiency diseases. Clin Exp Immunol 1977 1.10
85 Sol-gel trapping of functional intermediates of hemoglobin: geminate and bimolecular recombination studies. Biochemistry 2000 1.09
86 Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects. Clinical Teratology Committee, Canadian College of Medical Geneticists. CMAJ 1993 1.09
87 Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). Genet Epidemiol 2002 1.08
88 Transcriptional regulation of the albumin gene in cultured rat hepatocytes. Role of basement-membrane matrix. Mol Biol Med 1990 1.08
89 Biochemical abnormalities in rhizomelic chondrodysplasia punctata. J Pediatr 1988 1.08
90 Two DNA polymerases: HIV reverse transcriptase and the Klenow fragment of Escherichia coli DNA polymerase I. Cold Spring Harb Symp Quant Biol 1993 1.07
91 Localized control of ligand binding in hemoglobin: effect of tertiary structure on picosecond geminate recombination. Science 1985 1.07
92 Molecular genetic linkage maps of mouse chromosomes 4 and 6. Genomics 1991 1.06
93 Beta 93 modified hemoglobin: kinetic and conformational consequences. Biochemistry 2001 1.06
94 Do geneticists need Babel fish? Genet Med 2001 1.06
95 Genetics and epidemiology, congenital anomalies and cancer. Am J Hum Genet 1997 1.06
96 Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J Med Genet 2008 1.06
97 Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. J Med Genet 2008 1.06
98 Abnormal regulation of the leptin gene in the pathogenesis of obesity. Proc Natl Acad Sci U S A 1998 1.05
99 Transient Raman study of hemoglobin: structural dependence of the iron-histidine linkage. Science 1982 1.05
100 Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet 2004 1.05
101 The molecular basis of the obese mutation in ob2J mice. Genomics 1997 1.03
102 Case report. Aggressive ameloblastoma treated with radiotherapy, surgical ablation and reconstruction. J Am Dent Assoc 1998 1.03
103 The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility. Clin Genet 2007 1.03
104 A comparison of functional and structural consequences of the tyrosine B10 and glutamine E7 motifs in two invertebrate hemoglobins (Ascaris suum and Lucina pectinata). Biochemistry 1997 1.03
105 ACE inhibitors and congenital anomalies. N Engl J Med 2006 1.01
106 Chromosome abnormalities in human beings. Mutat Res 1997 1.01
107 Structural and functional significance of inhomogeneous line broadening of band III in hemoglobin and Fe-Mn hybrid hemoglobins. Biochemistry 1990 1.01
108 Central hemangioma of the mandible. Literature review, case report, and discussion. Oral Surg Oral Med Oral Pathol 1981 1.00
109 Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)? Clin Genet 2005 1.00
110 DNase I-hypersensitive sites in the 5'-flanking region of the rat serum albumin gene: correlation between chromatin structure and transcriptional activity. Proc Natl Acad Sci U S A 1986 1.00
111 Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: willingness to pay from families of affected children. Clin Genet 2009 1.00
112 Regulation of N-myc gene expression: use of an adenovirus vector to demonstrate posttranscriptional control. Mol Cell Biol 1990 1.00
113 Microdissection and microcloning of mid-chromosome 4: genetic mapping of 41 microdissection clones. Genomics 1993 1.00
114 Cellular promoters incorporated into the adenovirus genome: effects of viral regulatory elements on transcription rates and cell specificity of albumin and beta-globin promoters. Mol Cell Biol 1986 0.99
115 Picosecond time-resolved resonance Raman studies of hemoglobin: implications for reactivity. Science 1985 0.99
116 Associations of clinical features in neurofibromatosis 1 (NF1). Genet Epidemiol 2000 0.99
117 Incidental findings from clinical genome-wide sequencing: a review. J Genet Couns 2013 0.99
118 A severe form of congenital contractural arachnodactyly in two newborn infants. Am J Med Genet 1986 0.99
119 Umbilical dysmorphology. The importance of contemplating the belly button. Clin Genet 1985 0.99
120 Low-pass genome-wide sequencing and variant inference using identity-by-descent in an isolated human population. Genetics 2011 0.99
121 Medical genetics: 1. Clinical teratology in the age of genomics. CMAJ 2002 0.98
122 Myoglobin recombination at low temperature. Two phases revealed by Fourier transform infrared spectroscopy. J Biol Chem 1987 0.98
123 Functional implications of the proximal hydrogen-bonding network in myoglobin: a resonance Raman and kinetic study of Leu89, Ser92, His97, and F-helix swap mutants. Biochemistry 1998 0.98
124 Genetic counseling for autosomal dominant diseases with a negative family history. Clin Genet 1985 0.98
125 Kinetic hole burning, hole filling, and conformational relaxation in heme proteins: direct evidence for the functional significance of a hierarchy of dynamical processes. Biochemistry 1997 0.98
126 Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study. J Neurosurg 2002 0.98
127 Neonatal alloimmune thrombocytopenic purpura and congenital porencephaly in two siblings associated with a "new" maternal antiplatelet antibody. Blood 1985 0.97
128 Analysing rearrangement breakpoint distributions by means of binomial confidence intervals. Ann Hum Genet 1989 0.97
129 Teratogen update: azathioprine and 6-mercaptopurine. Teratology 2002 0.96
130 Pattern of cardiac malformation in oculoauriculovertebral spectrum. Am J Med Genet 1993 0.96
131 A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. Am J Med Genet 1984 0.95
132 Immunogenetic studies of juvenile dermatomyositis: HLA-DR antigen frequencies. Arthritis Rheum 1983 0.95
133 Absence of soluble leptin receptor in plasma from dbPas/dbPas and other db/db mice. J Biol Chem 1998 0.95
134 Molecular genetics of the brown (b)-locus region of mouse chromosome 4. I. Origin and molecular mapping of radiation- and chemical-induced lethal brown deletions. Genetics 1994 0.95
135 Williams syndrome in adults. Am J Med Genet 1992 0.94
136 Growth in North American white children with neurofibromatosis 1 (NF1). J Med Genet 2000 0.94
137 Associations of osseous abnormalities in Neurofibromatosis 1. Am J Med Genet A 2007 0.94
138 Pathogenesis of hereditary tumors: beyond the "two-hit" hypothesis. Clin Genet 2002 0.94
139 Immunogenetic studies of juvenile dermatomyositis. III. Study of antibody to organ-specific and nuclear antigens. Arthritis Rheum 1985 0.93
140 Mouse microsatellites from a flow-sorted 4:6 Robertsonian chromosome. Mamm Genome 1992 0.93
141 UV resonance raman spectra of ligand binding intermediates of sol-gel encapsulated hemoglobin. J Biol Chem 1999 0.93
142 Acute intravenous leptin infusion increases glucose turnover but not skeletal muscle glucose uptake in ob/ob mice. Diabetes 1999 0.92
143 Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. Am J Med Genet 1989 0.92
144 Temperature dependent quaternary state relaxation in sol-gel encapsulated hemoglobin. Biospectroscopy 1999 0.92
145 The medical status of methadone maintenance patients in treatment for 11-18 years. Drug Alcohol Depend 1993 0.92
146 The genetics of Graves' disease. Clin Endocrinol Metab 1978 0.92
147 O2 and CO reactions with heme proteins: quantum yields and geminate recombination on picosecond time scales. Biochemistry 1990 0.91
148 The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult. Am J Med 1975 0.91
149 Ensuring the safe and effective use of medications during pregnancy: planning and prevention through preconception care. Matern Child Health J 2006 0.91
150 A possible allosteric communication pathway identified through a resonance Raman study of four beta37 mutants of human hemoglobin A. Biochemistry 1998 0.91
151 Origin of the anomalous Fe-CO stretching mode in the CO complex of Ascaris hemoglobin. Biochemistry 2000 0.91
152 Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line. Am J Med Genet 2000 0.90
153 Radiotherapy in the management of recurrent ameloblastoma. A long term follow-up of a case. N Y State Dent J 1990 0.90
154 The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. J Med Genet 2005 0.90
155 Clinical objectives in medical genetics for undergraduate medical students. Association of Professors of Human Genetics, Clinical Objectives Task Force. Genet Med 2001 0.90
156 Leptin receptor mutations in 129 db3J/db3J mice and NIH facp/facp rats. Mamm Genome 1997 0.90
157 Survival among people with Down syndrome: a nationwide population-based study in Denmark. Genet Med 2012 0.90
158 Mouse chromosome 4. Mamm Genome 1992 0.90
159 Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1. J Med Genet 2006 0.89
160 Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet 2013 0.89
161 Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. Am J Med Genet 2001 0.88
162 Familial carcinoma of the pancreas. Clin Genet 1976 0.88
163 Ligand binding channels reflected in the resonance Raman spectra of cryogenically trapped species of myoglobin. J Biol Chem 1987 0.88
164 Acute nonlymphocytic leukemia: expression in cells restricted to granulocytic and monocytic differentiation. N Engl J Med 1979 0.88
165 Dynamics of cyanide binding to ferrous Scapharca inaequivalvis homodimeric hemoglobin. Biochemistry 1997 0.88
166 Hepatoma variants (C2) are defective for transcriptional and post-transcriptional actions from both endogenous and viral genomes. EMBO J 1987 0.88
167 The conformational and dynamic basis for ligand binding reactivity in hemoglobin Ypsilanti (beta 99 asp-->Tyr): origin of the quaternary enhancement effect. Biochemistry 1999 0.88
168 Cerebrovasculopathy in NF1 associated with ocular and scalp defects. Am J Med Genet A 2010 0.88
169 The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1. Am J Hum Genet 1992 0.87
170 Unaffected carrier males in families with fragile X syndrome. Am J Hum Genet 1985 0.87
171 Gd3+ vibronic side band spectroscopy. New optical probe of Ca2+ binding sites applied to biological macromolecules. Biophys J 1991 0.87
172 Anatomic correlates of ultrasonographic prenatal diagnosis. Prenat Diagn 1986 0.87
173 Multiaxial problem-oriented system for sexual dysfunctions: an alternative to DSM-III. Arch Gen Psychiatry 1982 0.87
174 Viral "tumorigenesis" in man: cell markers in condylomata acuminata. Int J Cancer 1976 0.87
175 Topography of the external surface of the human red blood cell membrane studied with a nonpenetrating label, [125I]diazodiiodosulfanilic acid. J Biol Chem 1977 0.86
176 Human leptin characterization. Nature 1996 0.86
177 Leptin and its receptor. J Endocrinol 1997 0.86
178 Metastable species of hemoglobin: room temperature transients and cryogenically trapped intermediates. Science 1983 0.86
179 Cys-93-betabeta-succinimidophenyl polyethylene glycol 2000 hemoglobin A. Intramolecular cross-bridging of hemoglobin outside the central cavity. J Biol Chem 2000 0.86
180 Life-threatening status asthmaticus at 12.5 weeks' gestation. Report of a normal pregnancy outcome. Chest 1991 0.85
181 Hydrogen bonding of tyrosine B10 to heme-bound oxygen in Ascaris hemoglobin. Direct evidence from UV resonance Raman spectroscopy. J Biol Chem 1996 0.85
182 Serum folate and cancer mortality among U.S. adults: findings from the Third National Health and Nutritional Examination Survey linked mortality file. Cancer Epidemiol Biomarkers Prev 2009 0.85
183 Mild phenotypic abnormalities in combined del 9p2 and dup 3p2. Am J Med Genet 1990 0.85
184 Immunogenetic studies of juvenile dermatomyositis. HLA antigens in patients and their families. Tissue Antigens 1983 0.85
185 Solution-active structural alterations in liganded hemoglobins C (beta6 Glu --> Lys) and S (beta6 Glu --> Val). J Biol Chem 1999 0.84
186 Monoamines and abnormal behaviour. A multi-aminergic perspective. Br J Psychiatry 1990 0.84
187 Can maternal alcohol ingestion cause neural tube defects? J Pediatr 1982 0.84
188 Cavernous hemangioma of the oral cavity: review of the literature and report of case. J Oral Surg 1973 0.84
189 Nosological tunnel vision in biological psychiatry. A plea for a functional psychopathology. Ann N Y Acad Sci 1990 0.84
190 Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: an analysis of multiple cause mortality data. Am J Med Genet A 2006 0.84
191 Genotype-phenotype correlations for cataracts in neurofibromatosis 2. J Med Genet 2003 0.84
192 Occurrence of chickenpox during pregnancy in women seropositive for varicella-zoster virus. J Infect Dis 1994 0.83
193 Identification of microsatellite markers linked to the human leptin receptor gene on chromosome 1. Genomics 1996 0.83
194 Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism. Am J Med Genet 1990 0.83
195 An unusual case of condylar dislocation. Ann Emerg Med 1988 0.83
196 Expression of the cholecystokinin gene by cultured human primitive neuroepithelioma cell lines. J Clin Endocrinol Metab 1989 0.83
197 Mouse chromosome 4. Mamm Genome 1991 0.83
198 Conformational changes in oxyhemoglobin C (Glu beta 6-->Lys) detected by spectroscopic probing. J Biol Chem 1996 0.82
199 Probable clonal origin of neurofibrosarcoma in a patient with hereditary neurofibromatosis. J Natl Cancer Inst 1982 0.82
200 Unidentified bright objects associated with features of neurofibromatosis 1. Pediatr Neurol 2002 0.82
201 Clinical teratology: identifying teratogenic risks in humans. Clin Genet 1999 0.82
202 HLA-B8 in juvenile dermatomyositis. Lancet 1977 0.82
203 Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am J Med Genet 1998 0.82
204 Ligation and quaternary structure induced changes in the heme pocket of hemoglobin: a transient resonance Raman study. Biochemistry 1982 0.82
205 Carboxy Mb at pH 3. Time-resolved resonance Raman study at cryogenic temperatures. Biophys J 1991 0.82
206 Trisomy-21 in mother and child. Report of a case. Obstet Gynecol 1970 0.81
207 Duty to re-contact: a study of families at risk for Fragile X. J Genet Couns 1999 0.81
208 Genetic variation and nutrition in obesity: approaches to the molecular genetics of obesity. World Rev Nutr Diet 1990 0.81
209 Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound. Am J Obstet Gynecol 1984 0.81
210 Hospitalizations among people with Down syndrome: a nationwide population-based study in Denmark. Am J Med Genet A 2013 0.81
211 Does Agent Orange cause birth defects? Teratology 1984 0.81
212 Exploring the "two-hit hypothesis" in NF2: tests of two-hit and three-hit models of vestibular schwannoma development. Genet Epidemiol 2003 0.81
213 Resonance Raman characterization of soluble guanylate cyclase expressed from baculovirus. Biochemistry 1998 0.80
214 Binding of intracellular protein to the erythrocyte membrane during incubation: the production of Heinz bodies. J Lab Clin Med 1975 0.80
215 Interpreting chromosomal abnormalities using Prolog. Comput Biomed Res 1990 0.80
216 The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Genet Med 2007 0.80
217 Natural history of X-linked aqueductal stenosis in the second and third trimesters of pregnancy. Am J Obstet Gynecol 1984 0.80
218 Cellular promoters incorporated into the adenovirus genome. Effect of viral DNA replication on endogenous and exogenous gene transcription. J Mol Biol 1987 0.80
219 A potential determinant of enhanced crystallization of Hbc: spectroscopic and functional evidence of an alteration in the central cavity of oxyHbC. Br J Haematol 1997 0.80
220 Hepatocellular carcinoma in a child with familial Russell-Silver syndrome. Am J Med Genet 1988 0.80
221 Molecular mapping of mouse chromosomes 4 and 6: use of a flow-sorted Robertsonian chromosome. Genomics 1992 0.80
222 Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 4. Mamm Genome 1993 0.80
223 Perfluorocarbon liquid effects on corneal endothelial permeability. Lens Eye Toxic Res 1992 0.80
224 Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation. Am J Med Genet 1985 0.79
225 Hb Montefiore (126(H9)Asp-->Tyr). High oxygen affinity and loss of cooperativity secondary to C-terminal disruption. J Biol Chem 1996 0.79
226 ReCAP: the Registry of Cytogenetic Abnormalities and Phenylketonuria. Am J Med Genet 1987 0.79
227 Cardiac characterization of 16 patients with large NF1 gene deletions. Clin Genet 2012 0.79
228 Obesity. Brown fat and yellow mice. Nature 1994 0.79
229 Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2). Genet Epidemiol 2002 0.79
230 Subunit heterogeneity in the structure and dynamics of hemoglobin. A transient Raman study. FEBS Lett 1983 0.79
231 Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs. Am J Med Genet 1989 0.79
232 Aneuploidy in germ cells: etiologies and risk factors. Environ Mol Mutagen 1996 0.79
233 Genetic heterogeneity in spondyloepiphyseal dysplasia congenita. Am J Med Genet 1984 0.79
234 Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. Am J Med Genet 1990 0.78
235 Growth charts for young children with neurofibromatosis 1 (NF1) Am J Med Genet 2000 0.78
236 Analysis of neurofibromatosis 1 (NF1) lesions by body segment. Am J Med Genet A 2004 0.78
237 Interspecies variations in the transient heme species generated subsequent to CO photolysis from hemoglobins. J Biol Chem 1987 0.78
238 Probing the hemoglobin central cavity by direct quantification of effector binding using fluorescence lifetime methods. J Biol Chem 1997 0.78
239 Carcinoma of the pancreas in four brothers. Birth Defects Orig Artic Ser 1976 0.78
240 Choosing animal models of human inborn errors of metabolism. Prog Clin Biol Res 1982 0.78
241 Molecular cloning of the mouse CCK gene: expression in different brain regions and during cortical development. Nucleic Acids Res 1991 0.78
242 Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature. Neurofibromatosis 1989 0.78
243 Microdissection of proximal mouse chromosome 6: identification of RFLPs tightly linked to the ob mutation. Mamm Genome 1993 0.78
244 The neuroendocrine response to fenfluramine in depressives and normal controls. Biol Psychiatry 1988 0.78
245 Strategies for the molecular genetic analysis of obesity in humans. Crit Rev Food Sci Nutr 1993 0.78
246 Developmental toxicity of ribavirin/IFalpha combination therapy: is the label more dangerous than the drugs? Birth Defects Res A Clin Mol Teratol 2003 0.78
247 Myotonic dystrophy: surgical and anesthetic considerations during orthognathic surgery. J Oral Maxillofac Surg 1983 0.78
248 Absence of ligand binding-induced tertiary changes in the multimeric earthworm Lumbricus terrestris hemoglobin. A resonance Raman study. J Biol Chem 1993 0.78
249 Analysis of NF1 transcriptional regulatory elements. Am J Med Genet A 2005 0.78
250 Hemifacial microsomia in cri du chat (5p-) syndrome. J Craniofac Genet Dev Biol 1982 0.77
251 Studies of density fractions of normal human erythrocytes labeled with iron-59 in vivo. J Lab Clin Med 1979 0.77
252 Desipramine treatment in panic disorder. J Affect Disord 1991 0.77
253 Effect of solvent viscosity on the heme-pocket dynamics of photolyzed (carbonmonoxy)hemoglobin. Biochemistry 1988 0.77
254 Near-infrared spectra of Scapharca homodimeric hemoglobin: characterization of the deoxy and photodissociated derivatives. Biophys J 1996 0.77
255 Dynamics and reactivity of HbXL99 alpha. A cross-linked hemoglobin derivative. J Biol Chem 1990 0.77
256 Characterization of short-chain alkyl ether lecithin analogues: 13C NMR and phospholipase studies. Biochemistry 1981 0.77
257 Clinical teratology counseling and consultation report: high dose beta-carotene use during early pregnancy. Teratology 1996 0.77
258 Cardiac findings in an individual with neurofibromatosis 1 and sudden death. Am J Med Genet 2001 0.77
259 Severe craniofacial sclerosis with multiple anomalies in a boy and his mother. Pediatr Radiol 1986 0.77
260 Quaternary structure sensitive tyrosine interactions in hemoglobin: a UV resonance Raman study of the double mutant rHb (beta99Asp-->Asn, alpha42Tyr-->Asp). Biochemistry 1997 0.77
261 Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome? Am J Med Genet 1991 0.77
262 Neuroblastoma in a child with Wiedemann-Beckwith syndrome. Am J Med Genet 1990 0.76
263 Vestibular and auditory findings of perilymphatic fistula: a review of 40 cases. Trans Sect Otolaryngol Am Acad Ophthalmol Otolaryngol 1976 0.76
264 Perturbation of the intermolecular contact regions (molecular surface) of hemoglobin S by intramolecular low-O2-affinity-inducing central cavity cross-bridges. J Protein Chem 2000 0.76
265 Activation of the low oxygen affinity-inducing potential of the Asn108(beta)-->Lys mutation of Hb-Presbyterian on intramolecular alpha alpha-fumaryl cross-bridging. Protein Eng 2001 0.76
266 Kallmann syndrome associated with choanal atresia. Clin Genet 1987 0.76
267 Increased frequency of HLA-B8 in juvenile dermatomyositis. Lancet 1977 0.76
268 Cell marker studies of human tumorigenesis. Transplant Rev 1976 0.76
269 The mouse Cebp gene encoding a DNA-binding protein is polymorphic and is located on chromosome 7. Cytogenet Cell Genet 1989 0.76
270 Maternal gene effect in neurofibromatosis 2: fact or artefact? J Med Genet 2001 0.75
271 The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study. Am J Med Genet A 2013 0.75
272 Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1) Neurology 1999 0.75
273 Maternal serum alpha-fetoprotein in pregnancy. Am J Obstet Gynecol 1990 0.75
274 One fewer worry for survivors of childhood cancer. Am J Hum Genet 1998 0.75
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