| scholarly article | Q13442814 |
| P356 | DOI | 10.1093/HMG/1.6.417 |
| P698 | PubMed publication ID | 1363801 |
| P2093 | author name string | Greenberg F | |
| Saitoh S | |||
| Niikawa N | |||
| Buiting K | |||
| Horsthemke B | |||
| Chinault AC | |||
| Mutirangura A | |||
| Dittrich B | |||
| Kuwano A | |||
| Ledbetter SA | |||
| P433 | issue | 6 | |
| P921 | main subject | fish | Q152 |
| P304 | page(s) | 417-425 | |
| P577 | publication date | 1992-09-01 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis | |
| P478 | volume | 1 |
| Q33678721 | A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. |
| Q33677377 | A boy with developmental delay and a maternally inherited deletion in 15q11q13 |
| Q33676035 | A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome |
| Q36762586 | A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. |
| Q41934004 | A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome |
| Q73489126 | A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region |
| Q41934469 | Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy |
| Q41541045 | Allele-specific replication timing of imprinted gene regions |
| Q34208328 | An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. |
| Q72802890 | An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13 |
| Q33678130 | Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis |
| Q54942144 | Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array. |
| Q41927444 | Angelman syndrome assessed by neurological and molecular cytogenetic investigations |
| Q42129638 | Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. |
| Q38830153 | Benefits and limitations of prenatal screening for Prader-Willi syndrome |
| Q28292519 | Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient |
| Q33699914 | Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey |
| Q34389945 | Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints |
| Q36337468 | Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor |
| Q33679254 | Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families |
| Q35889504 | Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients |
| Q72258805 | DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63) |
| Q70635392 | Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination |
| Q71300963 | Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q |
| Q28242397 | Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region |
| Q85125710 | Diagnosis of Cryptic Chromosomal Syndromes by Fluorescence In Situ Hybridization (FISH) |
| Q71126212 | Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee |
| Q34775497 | Disorders caused by chromosome abnormalities |
| Q38209741 | Epilepsy in Prader-Willi syndrome: clinical, diagnostic and treatment aspects |
| Q36148677 | Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse |
| Q28278808 | Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint |
| Q34081493 | Familial Prader-Willi syndrome: case report and a literature review |
| Q33677898 | Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome |
| Q36769063 | Fluorescence in situ hybridization |
| Q24671348 | High-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 patients |
| Q59031813 | Imprinting and splicing join together |
| Q35889365 | Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes |
| Q24536246 | In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified |
| Q35250235 | Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations |
| Q24628031 | Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb |
| Q43105109 | Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome |
| Q50301664 | Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization |
| Q33675294 | Intrachromosomal triplication of 15q11-q13. |
| Q33674701 | Inv dup(15) supernumerary marker chromosomes |
| Q28261729 | Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats |
| Q35881458 | Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis. |
| Q71104620 | Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities |
| Q33683424 | Large inv dup(15) chromosome in two generations |
| Q35194519 | Linkage analysis in familial Angelman syndrome |
| Q48481543 | Long-term outcome of epilepsy in patients with Prader-Willi syndrome. |
| Q46471442 | Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. |
| Q41778761 | Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity |
| Q30495343 | Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. |
| Q35643492 | Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients |
| Q35889343 | Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. |
| Q33595952 | Molecular mechanisms in Angelman syndrome: a survey of 93 patients |
| Q36783665 | Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. |
| Q24317332 | Organization and sequence of the human P gene and identification of a new family of transport proteins |
| Q46450703 | PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization |
| Q35136430 | Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice |
| Q36859135 | 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 |
| Q48232210 | Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults. |
| Q24540023 | Prader-Willi syndrome is caused by disruption of the SNRPN gene |
| Q34386784 | Rearrangements of chromosome 15 in epilepsy |
| Q41927482 | Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy |
| Q71104624 | Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10) |
| Q42284864 | Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation |
| Q28208127 | Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region |
| Q41640473 | Structure and function of the human chromosome 15 imprinting center |
| Q52019068 | Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. |
| Q33624260 | The Prader-Willi syndrome |
| Q38579867 | The complex genetics in autism spectrum disorders |
| Q72038526 | The genomic sequence for Prader-Willi/Angelman syndromes' loci of human is apparently conserved in the great apes |
| Q33680198 | The mechanisms involved in formation of deletions and duplications of 15q11-q13. |
| Q41863553 | The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. |
| Q41660473 | Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. |
| Q40549875 | Uniparental disomy and genomic imprinting as causes of human genetic disease |
| Q33595781 | Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome |
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