Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
about
Prader-Willi syndromeImprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignanciesA deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadismHigh-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patientsGene structure, DNA methylation, and imprinted expression of the human SNRPN geneClinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersMultipoint genetic mapping with uniparental disomy dataUniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Diagnosis in Prader-Willi syndrome.Inv dup(15) supernumerary marker chromosomes.A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.No evidence for uniparental disomy as a common cause of Sotos syndrome.Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7Correlation between hyperghrelinemia and carotid artery intima-media thickness in children with Prader-Willi syndrome.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Inability of muscles in the obese mouse (ob/ob) to respond to changes in body weight and activity.A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeComparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromesLinkage analysis in familial Angelman syndrome.Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.Normal phenotype with paternal uniparental isodisomy for chromosome 21.Nondisjunction of chromosome 15: origin and recombinationTrisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomyInherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.Uniparental disomy occurs infrequently in Wilms tumor patients.A somatic origin of homologous Robertsonian translocations and isochromosomes.Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome.Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphismsTypes, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes.QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype.
P2860
Q24517941-4EBF9B45-978B-4BC4-9EC7-93620E663B8CQ24562340-B6D0E38C-DB7D-4CDF-889B-2E04228B916CQ24655126-320276B4-5368-406D-81FD-7E3DB32E7AB0Q24671348-22FBAFDE-A1F3-486E-805F-3B4B8991AB12Q24676443-610A9BB9-94DA-4A36-AA20-6A58E83C1238Q28237313-CBA6C02A-36E0-4AA9-ADD8-1853AFB605E3Q30495385-D235B891-5D35-482F-B584-5875765ECBE2Q30609225-1534174B-86D2-4E74-B2CA-2AA388E4FD15Q33595781-4B28B1BD-7A5D-4CD3-942C-8F8418B37303Q33625228-FA16320C-21F6-4EB1-8696-68D62C0EF09EQ33674701-3C2671B1-E569-45C5-8E1C-735A9F53AC79Q33676035-0D884BB8-EE27-423B-ABD0-75131E11AFADQ33678247-87B53B22-0C38-4CA6-AEC9-C707C24061F7Q33678886-D05893F3-5D03-4604-8237-F3AB080D589AQ33680844-11D7C09E-1EE3-45C3-96F3-076C07C83D39Q33682758-F4E4334D-A071-4F76-BF80-73F34751D695Q33781923-7EBA2D5B-9B22-4F91-A605-CFC70D1AB36AQ33805828-9E904B7D-EB2B-49A2-90D9-4BA40D26E15CQ34087343-3FB0D401-C4A0-4239-999E-09112A0C2370Q34326210-C1AFFD1E-6956-42B0-B480-D8CE499F26A8Q34796000-54150313-E4D1-4421-9777-224347FBE81FQ35194519-7A2A15D3-DD13-46CD-A4CB-256F96AD570FQ35194640-A2C9E058-11B0-4EED-8E10-619A397D4202Q35194763-8AC556A4-4B23-4FF2-B0AB-F82A198E8B85Q35195059-20E1D6E0-5B1F-4281-AA35-6BD14813950CQ35195992-9A7AC541-412A-45D1-B5E8-13BF0BCE6F90Q35250235-C54ABC15-BAD0-44FC-9B7F-16529D47D876Q35250287-61C6187D-8B1F-4878-B4F3-6F87293400FEQ35643492-418C0214-037C-49D0-A4F9-F12AF4220B58Q35889086-13686BD9-0109-4C9C-B01A-237EFE3EAA03Q35889141-8F0F1DFB-DECA-4CE5-AD72-DE0E14932085Q35889504-26ED19E1-32F3-4E68-B040-E1849DF69F10Q36606299-25AADD84-71C8-4A60-93BD-CD6D77EDBB59Q40541891-C6E39FEF-C045-4188-A8F1-C065E484EF95Q41660473-4A8ECE94-5F07-468D-B49C-960361D55740Q41934004-FF4ADD16-AE76-4F1B-9C8D-D127684A0D9DQ43105012-C03946FC-231D-4F04-A37F-5FA4F252B555Q43105109-1CD43CA7-3315-43FE-B225-950A5D6CCB38Q43108903-DBB45FB0-8FBE-4600-B2DE-ECF0192F72FCQ55398953-3951E3C3-2769-4B14-A495-E71838171EE6
P2860
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
description
1991 nî lūn-bûn
@nan
1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
@ast
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
@en
type
label
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
@ast
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
@en
prefLabel
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
@ast
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
@en
P2093
P2860
P1476
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
@en
P2093
Balakrishman J
Robinson WP
Schinzel A
P2860
P304
P407
P577
1991-12-01T00:00:00Z