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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1016/j.apt.2015.06.011

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ISSN

1432-1203

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Merlin G Butler Philip D K Lee Barbara Y Whi

Authors: Ruth NewburyEcob
Publish Date: 2008/09/10
Volume: 124, Issue: 3, Pages: 289-290
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Abstract

Originally published in 1988 to provide a comprehensive review of PraderWilli Syndrome PWS for patients their families and the professionals involved in their care the third edition is a welcome update which includes recent developments in the treatment of PWS particularly growth hormone treatment insights into the genetic basis leading to improved diagnostic testing and better understanding of the psychosocial issues particularly in adulthood Consisting of over 500 pages it is remarkable how much is known about this relatively rare disorder and how much this has contributed to our understanding of endocrinology and metabolic disease particularly relating to obesityThe book is divided into three sections Part I edited by Mervin Butler covers Diagnosis and Genetics including the natural history Part II Medical Physiology and Treatment outlined by systems edited by metabolic physician Philip Lee and Part III on Multidisciplinary Management edited by Barbara Whitman

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Other Papers In This Journal:
  1. Mutational analysis of the human FATE gene in 144 infertile men
  2. Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome
  3. Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family
  4. De novo mutations producing unstable hemoglobins or hemoglobins M
  5. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
  6. A polymorphism in the promoter region of catalase is associated with blood pressure levels
  7. A polymorphism in the promoter region of catalase is associated with blood pressure levels
  8. A polymorphism in the promoter region of catalase is associated with blood pressure levels
  9. Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis
  10. Distal 15q trisomy with Dandy-Walker malformation in a female infant
  11. Molecular cloning, mapping, and characterization of a novel human gene, MTA1-L1 , showing homology to a metastasis-associated gene, MTA1
  12. High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations
  13. Genetic analysis of adiponectin and obesity in Hispanic families: the IRAS Family Study
  14. Replication of genetic loci for sarcoidosis in US black women: data from the Black Women’s Health Study
  15. G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population
  16. Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of the N -acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease
  17. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3
  18. Mutations in human IFT140 cause non-syndromic retinal degeneration
  19. Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence
  20. Human phosphoglycolate phosphatase (PGP) E.C.3.1.3.18: Linkage analysis
  21. Isolation of human chromosome 21-specific cosmids and their uses in mapping of cosmid contigs on chromosomal subregions
  22. Gene-based analysis suggests association of the nicotinic acetylcholine receptor β 1 subunit ( CHRNB1 ) and M1 muscarinic acetylcholine receptor ( CHRM1 ) with vulnerability for nicotine dependence
  23. Detection of DNA copy number abnormality by microarray expression analysis
  24. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14
  25. Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28
  26. DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores
  27. Novel polymorphism in the 5′-untranslated region of the interleukin-4 gene
  28. A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene
  29. Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non- APOE -ε4 carriers
  30. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene
  31. A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan
  32. The hOGG1 Ser 326 Cys gene polymorphism is associated with decreased insulin sensitivity in subjects with normal glucose tolerance
  33. The possible role of 10398A and 16189C mtDNA variants in providing susceptibility toT2DM in two North Indian populations: a replicative study
  34. Familial molar tissues due to mutations in the inflammatory gene, NALP7 , have normal postzygotic DNA methylation
  35. Translocation D/D involving two homologous chromosomes of the pair 15
  36. Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation
  37. Concordance and discordance of anencephaly in 109 twin pairs in Japan
  38. The population genetics of the Jewish people
  39. Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript
  40. Molecular cloning of a novel human gene ( SIRP-B2 ) which encodes a new member of the SIRP/SHPS-1 protein family
  41. Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1 , TRPC5 and TRPC6 , by association analysis and re-sequencing
  42. Genomic imprinting and its relevance to genetic diseases
  43. Association between the MLH1 gene and longevity
  44. No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population
  45. Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan
  46. Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins
  47. Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement
  48. Cancer-predisposing genes and chromosome mutation
  49. Regulating whole exome sequencing as a diagnostic test
  50. A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: An autosomal recessive chromosome instability syndrome?
  51. Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene
  52. Genomics and policymaking: from static models to complex systems?
  53. Association tests of interleukin-6 ( IL-6 ) and type II tumor necrosis factor receptor ( TNFR2 ) genes with bone mineral density in Caucasians using a re-sampling approach
  54. Common variants within the interleukin 4 receptor α gene (IL4R) are associated with susceptibility to osteoarthritis
  55. Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples
  56. A genome-wide association study of severe teenage acne in European Americans
  57. Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma
  58. Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutations
  59. Analysis of the HLA-DRw9 antigen using two-dimensional gel electrophoresis and alloantisera
  60. High heritability of bone size at the hip and spine in Chinese
  61. SNTG1, the gene encoding γ1-syntrophin: a candidate gene for idiopathic scoliosis
  62. Searching for signals of evolutionary selection in 168 genes related to immune function
  63. Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes
  64. Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer
  65. CTLA4 is differentially associated with autoimmune diseases in the Dutch population
  66. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia
  67. In situ detection of insulin-like growth factor II ( IGF2 ) and H19 gene expression in hepatocellular carcinoma
  68. Genomic organization and mutational analysis of KVLQT1 , a gene responsible for familial long QT syndrome
  69. Establishing a reference group for distal 18q-: clinical description and molecular basis
  70. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
  71. Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects
  72. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia
  73. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex
  74. Y chromosomes of prehistoric people along the Yangtze River
  75. Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
  76. Common coding variant in the TCF7L2 gene and study of the association with type 2 diabetes in Japanese subjects
  77. Genome-wide analysis of the structure of the South African Coloured Population in the Western Cape
  78. Saliva acid phosphatases and amylase in Senoi and Aboriginal Malays and superoxide dismutase in various racial groups of peninsular Malaysia
  79. High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis
  80. Stefan Müller (Ed.): Primate cytogenetics
  81. Linkage study of dominantly inherited olivo-ponto-cerebellar atrophy (OPCA) and Holmes' ataxia
  82. Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS
  83. A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden
  84. A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels
  85. A homozygous mutation in LTBP2 causes isolated microspherophakia
  86. FUS -linked essential tremor associated with motor dysfunction in Drosophila
  87. Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males
  88. Association study of the KCNJ3 gene as a susceptibility candidate for schizophrenia in the Chinese population
  89. Genetic polymorphism of the a subunit of human coagulation factor XIII in Japanese
  90. Genetic differentiation between upland and lowland populations shapes the Y-chromosomal landscape of West Asia
  91. Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans
  92. The microcell-mediated transfer of human chromosome 8 restores the deficient N -acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients
  93. Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations
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