about
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresStructure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in humanAutism or atypical autism in maternally but not paternally derived proximal 15q duplicationStructures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.Intrachromosomal triplication of distal 7p.Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.The mechanisms involved in formation of deletions and duplications of 15q11-q13.Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.Rearrangements of chromosome 15 in epilepsy.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome.Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.Autism and maternally derived aberrations of chromosome 15q.Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.Should the chromosome region 15q11q13 be tested systematically by FISH in the case of an autistic-like syndrome?Genomic screen and follow-up analysis for autistic disorder.Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.Copy number variations in children with brain malformations and refractory epilepsy.Optimal design of oligonucleotide microarrays for measurement of DNA copy-numberKaryotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature
P2860
Q21266627-8ADEF452-9B19-4854-91D2-194DE878420FQ24614728-CC1EEEA5-CC91-4F1D-BE1F-7AD6F31C988BQ24680506-07394867-C27F-4EA5-80D6-DB1DB43960C9Q28283600-E8997739-B9B6-4DB0-BA3D-611F0F880AB8Q28301354-96B9D169-83A9-4F20-8A2E-7FF4539A71A2Q30168524-A48C0CD6-E070-48E4-BB65-A7BE1CE21428Q30495343-5D48474C-5B8B-4C13-AEA7-7930565CE9B5Q30827417-1197B8FA-1EDC-4C73-867B-ABF47FDF820BQ32113622-3D48C6D8-0CF5-453B-9C76-87530EB14519Q33537428-1029EBC4-F6BE-4C2B-AC5C-DD1550561CD3Q33678546-CF697557-379C-4374-BEB7-CF11808F81ACQ33680198-276E3F0A-8EE8-4C76-A400-2F0BC87DA5DBQ33680746-C358C093-36B3-436C-8FE6-6D22186843CFQ33712728-9933C8A0-C031-4204-BE59-86988C5B14ACQ34385408-D72EC7B1-6CE9-434C-A238-A466A6880AAFQ34386784-1F69F838-1173-444E-9493-8A2794CE0EB5Q34389945-7D69720E-B3E7-469E-A29D-27C37E24F57FQ34570567-C9425AC3-E0BD-4B37-8C92-AFF71E816EBDQ34705056-2780A61D-222D-4D78-BE8E-709DA16A2C27Q35250235-F7E8F95D-7D09-4F3E-A9D6-B269C61E8C30Q35643492-DD75A642-DFD2-496C-A00E-2B6D256D346AQ37044340-147A93AB-D097-4AE4-9EDB-8B2EDB2F5A99Q37634108-BB5EFC30-6164-4D94-90BE-450D27CD7B20Q42633715-4CA28FB9-BA63-46FA-B767-7E86E0EBF737Q50301664-10C3D614-985C-473C-AD15-D23190B4CE9BQ50302069-88BFEBD2-C134-44F1-AFAE-C85D3B7125ABQ50302516-B0E4320D-FAE4-4224-9ED8-A2BAB10F9925Q50305599-7818FDA6-86FE-41CA-865A-C1308755126FQ50309756-CCA47553-08B0-41D2-89BA-C7A5142DB1C4Q50310138-F60D48A0-9B53-4EBC-916D-148606FF3C65Q53215506-6766BA29-9561-42BF-9AE2-47900F357D2AQ53612711-7A95E25E-9E83-46D0-A4C2-A6952F0A98A9Q57339092-12052E5C-92EA-413F-8263-1BECC8B9AF76Q57790305-0511533D-8F2D-4146-BE67-6E327C455647
P2860
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Intrachromosomal triplication of 15q11-q13.
@ast
Intrachromosomal triplication of 15q11-q13.
@en
type
label
Intrachromosomal triplication of 15q11-q13.
@ast
Intrachromosomal triplication of 15q11-q13.
@en
prefLabel
Intrachromosomal triplication of 15q11-q13.
@ast
Intrachromosomal triplication of 15q11-q13.
@en
P2093
P2860
P356
P1476
Intrachromosomal triplication of 15q11-q13.
@en
P2093
Bernasconi F
Brecevic L
Robinson WP
Schinzel AA
Wuilloud A
P2860
P304
P356
10.1136/JMG.31.10.798
P407
P577
1994-10-01T00:00:00Z