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71. Cheng IK, Ching AK, Chan TC, Chan AW, Wong CK, Choy KW, Kwan M, Lai PB, Wong N: Reduced CRYL1 expression in hepatocellular carcinoma confers cell growth advantages and correlates with adverse patient prognosis. J Pathol; 2010 Feb;220(3):348-60
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  • Array-CGH analysis on early passage of HCC cultures and cell lines led us to identify six homozygous deleted (HD) regions.
  • A high concordance between array-CGH and expression of HD genes was demonstrated, where crystallin Lambda1 (CRYL1; located on chromosome 13q12.11) displayed the most frequent down-regulation.
  • Significant associations could also be drawn between repressed CRYL1 and advanced tumour staging, increased tumour size, and shorter disease-free survival of patients (p < 0.037).
  • Moreover, homozygous deletions on CRYL1 could be detected in 36% of HCC cases, where recurrent HDs were identified on exons 1, 5, and 8.
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Cell Cycle / physiology. Comparative Genomic Hybridization / methods. Down-Regulation. Female. Humans. Male. Middle Aged. Polymerase Chain Reaction / methods. Prognosis. RNA, Messenger / genetics. RNA, Neoplasm / genetics. Survival Analysis. Tumor Cells, Cultured

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  • [Copyright] Copyright 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
  • (PMID = 19927314.001).
  • [ISSN] 1096-9896
  • [Journal-full-title] The Journal of pathology
  • [ISO-abbreviation] J. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / CRYL1 protein, human; 0 / Crystallins; 0 / Neoplasm Proteins; 0 / RNA, Messenger; 0 / RNA, Neoplasm
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72. Berardo A, DiMauro S, Hirano M: A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep; 2010 Mar;10(2):118-26
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  • The wide clinical spectrum of metabolic myopathies ranges from severe infantile-onset multisystemic diseases to adult-onset isolated myopathies with exertional cramps.
  • Diagnosing these diverse disorders often is challenging because clinical features such as recurrent myoglobinuria and exercise intolerance are common to all three types of metabolic myopathy.

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  • (PMID = 20425236.001).
  • [ISSN] 1534-6293
  • [Journal-full-title] Current neurology and neuroscience reports
  • [ISO-abbreviation] Curr Neurol Neurosci Rep
  • [Language] ENG
  • [Grant] United States / NICHD NIH HHS / HD / R01 HD057543; None / None / / R01 HD057543-03; United States / NICHD NIH HHS / HD / R01 HD057543-03
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 9005-79-2 / Glycogen
  • [Number-of-references] 53
  • [Other-IDs] NLM/ NIHMS195802; NLM/ PMC2872126
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73. Cody JD, Sebold C, Malik A, Heard P, Carter E, Crandall A, Soileau B, Semrud-Clikeman M, Cody CM, Hardies LJ, Li J, Lancaster J, Fox PT, Stratton RF, Perry B, Hale DE: Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay. Am J Med Genet A; 2007 Jun 1;143A(11):1181-90
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  • [Title] Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay.
  • [MeSH-minor] Adult. Anthropometry. Behavior. Child. Child, Preschool. Cognition. Female. Humans. Infant. Male. Neuropsychological Tests. Syndrome

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  • [Copyright] Copyright (c) 2007 Wiley-Liss, Inc.
  • (PMID = 17486614.001).
  • [ISSN] 1552-4825
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Grant] United States / NCRR NIH HHS / RR / M01-RR-01346; United States / NICHD NIH HHS / HD / R01-HD-045907
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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7
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4. Gombatto SP, Collins DR, Sahrmann SA, Engsberg JR, Van Dillen LR: Patterns of lumbar region movement during trunk lateral bending in 2 subgroups of people with low back pain. Phys Ther; 2007 Apr;87(4):441-54
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  • SUBJECTS: Participants were 44 people (28 men and 16 women; age [X+/-SD], 28.5+/-8.4 years) with chronic or recurrent LBP.
  • [MeSH-minor] Adult. Female. Humans. Male. Torsion Abnormality

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  • (PMID = 17374634.001).
  • [ISSN] 0031-9023
  • [Journal-full-title] Physical therapy
  • [ISO-abbreviation] Phys Ther
  • [Language] eng
  • [Grant] United States / NICHD NIH HHS / HD / 1 K01HD01226-05; United States / NICHD NIH HHS / HD / 5 T32 HD07434-10
  • [Publication-type] Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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75. Thomas JS, France CR, Sha D, Vander Wiele N, Moenter S, Swank K: The effect of chronic low back pain on trunk muscle activations in target reaching movements with various loads. Spine (Phila Pa 1976); 2007 Dec 15;32(26):E801-8
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  • SUMMARY OF BACKGROUND DATA: Changes in the precise timing of trunk muscle activation may cause an initial episode of back pain, or contribute to the development of recurrent or chronic symptoms.
  • [MeSH-minor] Adolescent. Adult. Chronic Disease. Cross-Sectional Studies. Electromyography / methods. Female. Humans. Male. Reaction Time / physiology. Recurrence. Weight-Bearing / physiology

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  • (PMID = 18091474.001).
  • [ISSN] 1528-1159
  • [Journal-full-title] Spine
  • [ISO-abbreviation] Spine
  • [Language] eng
  • [Grant] United States / NICHD NIH HHS / HD / R01-HD045512
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
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86. Li J, Yan DL, Zhang ZH: Percutaneous cervical nucleoplasty in the treatment of cervical disc herniation. Eur Spine J; 2008 Dec;17(12):1664-9
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  • The angular displacement (AD) > or =11 degrees or horizontal displacement (HD) > or =3 mm was considered to be radiographically unstable.
  • There were no recurrent cases or complications in our series.
  • [MeSH-minor] Adult. Aged. Catheterization / adverse effects. Catheterization / standards. Decompression, Surgical / adverse effects. Decompression, Surgical / instrumentation. Decompression, Surgical / methods. Female. Humans. Male. Middle Aged. Minimally Invasive Surgical Procedures / adverse effects. Minimally Invasive Surgical Procedures / instrumentation. Minimally Invasive Surgical Procedures / methods. Neck Pain / etiology. Neck Pain / surgery. Outcome Assessment (Health Care) / methods. Postoperative Complications / etiology. Postoperative Complications / prevention & control. Prospective Studies. Radiculopathy / pathology. Radiculopathy / radiography. Radiculopathy / surgery. Spondylosis / pathology. Spondylosis / radiography. Spondylosis / surgery. Treatment Outcome


87. Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt Iv, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD: Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet; 2006 Feb;78(2):279-90
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  • [Title] Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
  • To test this model, we investigated further the diversity of germline and somatic PTPN11 mutations, delineated the association of those mutations with disease, characterized biochemically a panel of mutant SHP-2 proteins recurring in NS, LS, and leukemia, and performed molecular dynamics simulations to determine the structural effects of selected mutations.
  • Our results document a strict correlation between the identity of the lesion and disease and demonstrate that NS-causative mutations have less potency for promoting SHP-2 gain of function than do leukemia-associated ones.
  • Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.
  • [MeSH-minor] Adult. Amino Acid Sequence. Cohort Studies. Female. Germ-Line Mutation. Humans. Male. Mutation. Protein Conformation. Protein Tyrosine Phosphatase, Non-Receptor Type 11

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  • (PMID = 16358218.001).
  • [ISSN] 0002-9297
  • [Journal-full-title] American journal of human genetics
  • [ISO-abbreviation] Am. J. Hum. Genet.
  • [Language] eng
  • [Grant] United States / NICHD NIH HHS / HD / K24 HD001294; United States / NCI NIH HHS / CA / R01 CA095621; United States / NICHD NIH HHS / HD / HD01294; United States / NHLBI NIH HHS / HL / R01 HL071207; United States / NHLBI NIH HHS / HL / P50 HL074728; United States / NHLBI NIH HHS / HL / HL074728; United States / NCI NIH HHS / CA / CA095621; Italy / Telethon / / GGP04172; United States / NHLBI NIH HHS / HL / HL71207
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Intracellular Signaling Peptides and Proteins; EC 3.1.3.48 / PTPN11 protein, human; EC 3.1.3.48 / Protein Tyrosine Phosphatase, Non-Receptor Type 11; EC 3.1.3.48 / Protein Tyrosine Phosphatases
  • [Other-IDs] NLM/ PMC1380235
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88. Gunnarsdóttir A, Sandblom G, Arnbjörnsson E, Larsson LT: Quality of life in adults operated on for Hirschsprung disease in childhood. J Pediatr Gastroenterol Nutr; 2010 Aug;51(2):160-6
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  • [Title] Quality of life in adults operated on for Hirschsprung disease in childhood.
  • OBJECTIVES: The aim of this study is to explore the long-term quality of life (QoL) in adults after surgery for Hirschsprung disease in childhood.
  • PATIENTS AND METHODS: Altogether 51 patients were operated for HD at our center during the period 1969 to 1989.
  • At the last clinical control, 4 (9%) patients had a terminal enterostomy, 12 (29%) had soiling, 5 (12%) had constipation, and 2 (5%) experienced recurrent enterocolitis.
  • CONCLUSIONS: The long-term QoL of adults operated for Hirschsprung disease in their youth is satisfactory.
  • [MeSH-major] Hirschsprung Disease / surgery. Postoperative Complications. Quality of Life
  • [MeSH-minor] Adolescent. Adult. Constipation / epidemiology. Constipation / etiology. Enterocolitis / epidemiology. Enterocolitis / etiology. Enterostomy. Fecal Incontinence / epidemiology. Fecal Incontinence / etiology. Female. Follow-Up Studies. Humans. Linear Models. Male. Mental Health. Middle Aged. Multivariate Analysis. Sex Factors. Surveys and Questionnaires. Young Adult

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  • (PMID = 20453676.001).
  • [ISSN] 1536-4801
  • [Journal-full-title] Journal of pediatric gastroenterology and nutrition
  • [ISO-abbreviation] J. Pediatr. Gastroenterol. Nutr.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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89. Chenot JF, Becker A, Leonhardt C, Keller S, Donner-Banzhoff N, Hildebrandt J, Basler HD, Baum E, Kochen MM, Pfingsten M: Sex differences in presentation, course, and management of low back pain in primary care. Clin J Pain; 2008 Sep;24(7):578-84
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  • Logistic regression models-adjusting for sociodemographic and disease-related data-were conducted to investigate the effect of sex for the use of healthcare services.
  • They were more likely to have recurrent or chronic LBP and to have a positive depression score.
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Female. Germany / epidemiology. Humans. Male. Middle Aged. Prevalence. Primary Prevention / statistics & numerical data. Risk Factors. Sex Distribution. Treatment Outcome

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  • (PMID = 18716496.001).
  • [ISSN] 1536-5409
  • [Journal-full-title] The Clinical journal of pain
  • [ISO-abbreviation] Clin J Pain
  • [Language] eng
  • [Publication-type] Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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90. Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H: Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet; 2010 Mar;127(5):583-93
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  • [Title] Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
  • Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity.
  • Two pathogenic mutations in a single gene have been found in 117 families, and a single heterozygous mutation in 17 families (of which 8 involve the BBS1 recurrent mutation, M390R).
  • [MeSH-minor] Adult. Aged. Chromatography, High Pressure Liquid. Chromosome Mapping. Decision Trees. Female. Gene Deletion. Gene Duplication. Gene Frequency. Genetic Testing. Homozygote. Humans. Male. Microsatellite Repeats. Middle Aged. Molecular Sequence Data. Pedigree. Polymorphism, Single Nucleotide. Polymorphism, Single-Stranded Conformational. Sequence Analysis, DNA


91. West MJ, Nestel PJ, Kirby AC, Schnabel R, Sullivan D, Simes RJ, Pollicino C, Lubos E, Münzel TF, White HD, Tonkin AM, Bickel C, Tiret L, Blankenberg S, LIPID Study Investigators: The value of N-terminal fragment of brain natriuretic peptide and tissue inhibitor of metalloproteinase-1 levels as predictors of cardiovascular outcome in the LIPID study. Eur Heart J; 2008 Apr;29(7):923-31
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  • METHODS AND RESULTS: Plasma NT-proBNP and TIMP-1 were measured in a nested case control study of 250 randomly matched subject pairs enrolled in the long-term intervention with pravastatin in ischaemic disease (LIPID) and LIPID extended follow-up studies.
  • The odds ratio (OR) of recurrent cardiovascular events in individuals in the highest quartile was three times higher than those in the lowest quartile (95% confidence interval (CI) 1.8-5.1; P < 0.001).
  • CONCLUSION: The study suggests that in subjects with stable ischaemic disease, NT-proBNP and TIMP-1 are independent predictive markers of coronary heart disease outcome.
  • [MeSH-minor] Adult. Aged. Anticholesteremic Agents / therapeutic use. Biomarkers / blood. C-Reactive Protein / metabolism. Case-Control Studies. Coronary Angiography. Female. Humans. Leukocyte Count. Male. Middle Aged. Pravastatin / therapeutic use. Prognosis. Risk Factors

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  • [CommentIn] Eur Heart J. 2008 Apr;29(7):837-9 [18334472.001]
  • (PMID = 18296678.001).
  • [ISSN] 0195-668X
  • [Journal-full-title] European heart journal
  • [ISO-abbreviation] Eur. Heart J.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Anticholesteremic Agents; 0 / Biomarkers; 0 / C-reactive protein (164-173); 0 / Peptide Fragments; 0 / Tissue Inhibitor of Metalloproteinase-1; 0 / pro-brain natriuretic peptide (1-76); 114471-18-0 / Natriuretic Peptide, Brain; 9007-41-4 / C-Reactive Protein; KXO2KT9N0G / Pravastatin
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92. Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D: Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. J Med Genet; 2006 Jun;43(6):470-7
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  • [Title] Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

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  • (PMID = 16155192.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United States / NICHD NIH HHS / HD / R01 HD043100; United States / NICHD NIH HHS / HD / 1 R01 HD43100-01A1
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / MECP2 protein, human; 0 / Methyl-CpG-Binding Protein 2; 0 / Protein Isoforms; 0 / RNA, Messenger
  • [Other-IDs] NLM/ PMC2593027
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93. Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR: Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet; 2009 Apr;46(4):223-32
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  • [Title] Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

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  • (PMID = 18550696.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United States / NICHD NIH HHS / HD / R01 HD043569; United States / NICHD NIH HHS / HD / HD043569; United States / Howard Hughes Medical Institute / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2658752
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94. Klebanoff MA, Meis PJ, Dombrowski MP, Zhao Y, Moawad AH, Northen A, Sibai BM, Iams JD, Varner MW, Caritis SN, O'Sullivan MJ, Leveno KJ, Miodovnik M, Conway D, Wapner RJ, Carpenter M, Mercer BM, Ramin SM, Thorp JM, Peaceman AM, National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network: Salivary progesterone and estriol among pregnant women treated with 17-alpha-hydroxyprogesterone caproate or placebo. Am J Obstet Gynecol; 2008 Nov;199(5):506.e1-7
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  • Weekly salivary samples were obtained from 40 women who received 17OHPC and 40 who received placebo in a multicenter randomized trial of 17OHPC to prevent recurrent preterm delivery.

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  • (PMID = 18456237.001).
  • [ISSN] 1097-6868
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  • [ISO-abbreviation] Am. J. Obstet. Gynecol.
  • [Language] ENG
  • [Grant] United States / NICHD NIH HHS / HD / HD36801; United States / PHS HHS / / NIH0010045861; United States / NICHD NIH HHS / HD / U10 HD040500; United States / NICHD NIH HHS / HD / HD27861; United States / NICHD NIH HHS / HD / UG1 HD027869; United States / NICHD NIH HHS / HD / HD27905; United States / NICHD NIH HHS / HD / U10 HD040544; United States / NICHD NIH HHS / HD / UG1 HD034116; United States / NICHD NIH HHS / HD / HD27869; United States / NICHD NIH HHS / HD / HD34136; United States / NICHD NIH HHS / HD / UG1 HD040560; United States / NICHD NIH HHS / HD / U10 HD034136; United States / NICHD NIH HHS / HD / HD27860; United States / NICHD NIH HHS / HD / UG1 HD027915; United States / NICHD NIH HHS / HD / U10 HD040485; United States / NICHD NIH HHS / HD / HD21414; United States / Intramural NIH HHS / / NIH0010045861; United States / NICHD NIH HHS / HD / U10 HD027905; United States / NICHD NIH HHS / HD / HD40512; United States / NICHD NIH HHS / HD / UG1 HD040544; United States / NICHD NIH HHS / HD / UG1 HD034208; United States / NICHD NIH HHS / HD / UG1 HD040512; United States / NICHD NIH HHS / HD / U10 HD034116; United States / NICHD NIH HHS / HD / HD40560; United States / NICHD NIH HHS / HD / HD34122; United States / NICHD NIH HHS / HD / HD34210; United States / NICHD NIH HHS / HD / HD21410; United States / NICHD NIH HHS / HD / U10 HD027869; United States / NICHD NIH HHS / HD / U10 HD027917; United States / NICHD NIH HHS / HD / HD34116; United States / NICHD NIH HHS / HD / U10 HD034122; United States / NICHD NIH HHS / HD / HD027860-09; United States / NICHD NIH HHS / HD / U10 HD027915; United States / NICHD NIH HHS / HD / U10 HD027860; United States / NICHD NIH HHS / HD / HD40500; United States / NICHD NIH HHS / HD / U10 HD040560; United States / NICHD NIH HHS / HD / U10 HD034208; United States / NICHD NIH HHS / HD / U10 HD027860-09; United States / NICHD NIH HHS / HD / HD34208; United States / NICHD NIH HHS / HD / HD27915; United States / NICHD NIH HHS / HD / UG1 HD040500; United States / NICHD NIH HHS / HD / U10 HD040512; United States / NICHD NIH HHS / HD / HD27917; United States / NICHD NIH HHS / HD / U10 HD021410; United States / NICHD NIH HHS / HD / U10 HD036801; United States / NICHD NIH HHS / HD / HD40544; United States / NICHD NIH HHS / HD / U01 HD036801
  • [Publication-type] Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Hydroxyprogesterones; 276F2O42F5 / 17-alpha-hydroxy-progesterone caproate; 4G7DS2Q64Y / Progesterone; FB33469R8E / Estriol
  • [Other-IDs] NLM/ NIHMS154735; NLM/ PMC2794481
  • [Investigator] Rouse D; Hauth J; Silver H; Tillinghast J; Catalano P; Milluzzi C; Jones P; Lindheimer M; Elder N; Siddiqi T; D'Alton M; Pemberton V; Das A; Zhao Y; Leindecker S; Cotroneo M; Lain K; Alfonso C; Beydoun S; Spong C; McNellis D; Pagliaro S; Dorman K; Moise K; Mallet G; Socol M; Johnson F; Landon M; Ramsey R; Langer O; Nicholson S; Day MC; Gilstrap L; Mc-Campbell J; Wendel G; Gabbe S; DiVito M; Tolosa J; Belfort M; Taggart E; Mueller-Heubach E; Swain M; Norman G; Sorokin Y
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95. Sipötz J, Gwechenberger M, Richter B, Adlbrecht C, Kornfeld G, Gössinger HD: Treatment of a recurrent atrial tachycardia by isolation of the right inferior pulmonary vein using a multi-electrode duty cycled ablation catheter. Europace; 2010 Dec;12(12):1788-9
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  • [Title] Treatment of a recurrent atrial tachycardia by isolation of the right inferior pulmonary vein using a multi-electrode duty cycled ablation catheter.
  • [MeSH-minor] Adult. Electrocardiography, Ambulatory. Electrodes. Fluoroscopy. Humans. Male. Secondary Prevention. Treatment Outcome

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  • (PMID = 20650940.001).
  • [ISSN] 1532-2092
  • [Journal-full-title] Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
  • [ISO-abbreviation] Europace
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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96. Fujimura Y, Yasuno F, Farris A, Liow JS, Geraci M, Drevets W, Pine DS, Ghose S, Lerner A, Hargreaves R, Burns HD, Morse C, Pike VW, Innis RB: Decreased neurokinin-1 (substance P) receptor binding in patients with panic disorder: positron emission tomographic study with [18F]SPA-RQ. Biol Psychiatry; 2009 Jul 1;66(1):94-7
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  • We sought to determine if patients with panic disorder have altered density of NK(1) receptors in brain because of their history of recurrent panic attacks.

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  • (PMID = 19200949.001).
  • [ISSN] 1873-2402
  • [Journal-full-title] Biological psychiatry
  • [ISO-abbreviation] Biol. Psychiatry
  • [Language] ENG
  • [Grant] United States / NIMH NIH HHS / MH / Z01 MH002852; United States / Intramural NIH HHS / / Z01 MH002852-04
  • [Publication-type] Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / (2-fluoromethoxy-5-(5-trifluoromethyltetrazol-1-yl)benzyl)(2-phenylpiperidin-3-yl)amine; 0 / Piperidines; 0 / Receptors, Neurokinin-1; 0 / Tetrazoles
  • [Other-IDs] NLM/ NIHMS160526; NLM/ PMC2789441
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97. Maletkovic J, Schiffmann R, Gorospe JR, Gordon ES, Mintz M, Hoffman EP, Alper G, Lynch DR, Singhal BS, Harding C, Amartino H, Brown CM, Chan A, Renaud D, Geraghty M, Jensen L, Senbil N, Kadom N, Nazarian J, Yuanjian Feng, Zuyi Wang, Hartka T, Morizono H, Vanderver A: Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol; 2008 Feb;23(2):205-15
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  • Eukaryotic initiation factor 2B (eIF2B)-related disorders are heritable white matter disorders with a variable clinical phenotype (including vanishing white matter disease and ovarioleukodystrophy) and an equally heterogeneous genotype.
  • Although recurrent mutations have been found at CpG dinucleotides in the EIF2B genes, the high incidence of private or low frequency mutations increases the challenge of providing rapid genetic confirmation of this disorder, and limits the application of EIF2B screening in cases of undiagnosed leukodystrophy.
  • [MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Female. Genetic Predisposition to Disease. Genetic Testing. Humans. Infant. Infant, Newborn. Male. Models, Genetic. Mutation / genetics. Protein Subunits / genetics. Structural Homology, Protein

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  • (PMID = 18263758.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Grant] United States / NICHD NIH HHS / HD / 1P30HD40677-01; United States / NICHD NIH HHS / HD / HD-P30-40677; United States / NICHD NIH HHS / HD / K12HD001399; United States / Intramural NIH HHS / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
  • [Publication-country] Canada
  • [Chemical-registry-number] 0 / Eukaryotic Initiation Factor-2B; 0 / Protein Subunits
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98. Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR: Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet; 2009 Jun 1;18(11):1924-36
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  • In contrast to genomic disorders that are often associated with recurrent rearrangements, breakpoints involving the 9q34.3 subtelomere region are highly variable.

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  • (PMID = 19293338.001).
  • [ISSN] 1460-2083
  • [Journal-full-title] Human molecular genetics
  • [ISO-abbreviation] Hum. Mol. Genet.
  • [Language] ENG
  • [Grant] United States / NICHD NIH HHS / HD / HD24064; United States / NICHD NIH HHS / HD / P01 HD39420
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2678925
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99. Feely T, Copley A, Bleyer AJ: Catheter lock solutions to prevent bloodstream infections in high-risk hemodialysis patients. Am J Nephrol; 2007;27(1):24-9
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  • BACKGROUND: Antimicrobial catheter lock solutions (CLS) have been shown to prevent bacteremia in chronic hemodialysis (HD) patients with new HD catheters.
  • However, there is little information regarding the usage of these solutions in patients who have a history of recurrent bacteremia and are at very high risk of infection.
  • METHODS: A retrospective chart review was performed to identify patients who had a history of recurrent bacteremia and had received prophylaxis with antimicrobial CLS.
  • RESULTS: Nine patients with recurrent bacteremia were identified.
  • [MeSH-minor] Adult. Drug Combinations. Equipment Failure. Female. Follow-Up Studies. Humans. Incidence. Male. Middle Aged. Retrospective Studies. Risk Factors

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  • [Copyright] 2007 S. Karger AG, Basel
  • (PMID = 17215571.001).
  • [ISSN] 1421-9670
  • [Journal-full-title] American journal of nephrology
  • [ISO-abbreviation] Am. J. Nephrol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Anti-Bacterial Agents; 0 / Dialysis Solutions; 0 / Drug Combinations
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100. Kim HJ, Park HY, Kim E, Lee KS, Kim KK, Choi BO, Kim SM, Bae JS, Lee SO, Chun JY, Park TJ, Cheong HS, Jo I, Shin HD: Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica. Neurobiol Dis; 2010 Feb;37(2):349-55
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  • Neuromyelitis optica (NMO) is a severe idiopathic inflammatory disease of the central nervous system primarily affecting the optic nerves and spinal cord.
  • In this study, we generated genome-wide SNP data from NMO patients and normal controls (53 cases and 240 controls), and followed up on the association signals with samples from a larger number of inflammatory demyelinating diseases, including NMO (n=93), multiple sclerosis (MS, n=71), idiopathic recurrent transverse myelitis (IRTM, n=57), and normal controls (n=240).
  • [MeSH-major] Cholesterol 7-alpha-Hydroxylase / genetics. Genetic Predisposition to Disease / genetics. Neuromyelitis Optica / genetics. Neuromyelitis Optica / metabolism. Polymorphism, Genetic / genetics. Promoter Regions, Genetic / genetics
  • [MeSH-minor] Adult. DNA Mutational Analysis. Female. Gene Dosage / genetics. Genetic Markers / genetics. Genome-Wide Association Study. Genotype. Humans. Male. Middle Aged. Multiple Sclerosis / genetics. Multiple Sclerosis / metabolism. Multiple Sclerosis / physiopathology. Myelitis, Transverse / genetics. Myelitis, Transverse / metabolism. Myelitis, Transverse / physiopathology. Optic Nerve / metabolism. Optic Nerve / pathology. Optic Nerve / physiopathology. Polymorphism, Single Nucleotide / genetics. Spinal Cord / metabolism. Spinal Cord / pathology. Spinal Cord / physiopathology

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  • (PMID = 19850125.001).
  • [ISSN] 1095-953X
  • [Journal-full-title] Neurobiology of disease
  • [ISO-abbreviation] Neurobiol. Dis.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Genetic Markers; EC 1.14.13.17 / Cholesterol 7-alpha-Hydroxylase
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