Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.
about
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterationsMultiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismPaternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and reviewEpigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxiaCharacterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delayClinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.New perspectives for the elucidation of genetic disordersCytogenetics and gene discovery in psychiatric disorders.Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.On the structural plasticity of the human genome: chromosomal inversions revisited.Mapping translocation breakpoints by next-generation sequencingDeep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disordersDisruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.Balanced Autosomal Translocations in Two Women Reporting Recurrent Miscarriage.Detection and interpretation of genomic structural variation in health and disease.The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder.A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infectionsThe establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriersIncreased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function.Identification of a t(3;4)(p1.3;q1.5) translocation breakpoint in pigs using somatic cell hybrid mapping and high-resolution mate-pair sequencing.Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.Identification and molecular characterization of two novel chromosomal deletions associated with autism.Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings.Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases
P2860
Q28771505-A942FF3B-F39D-4EF5-B497-5E5B553C9240Q29013643-65A04228-2B39-4A80-9C77-9F363644F5AAQ34244428-DA00D90B-110C-42C6-94D4-2022C30B0433Q34463195-DA2E4572-0CB6-48F6-8622-4246D942BF0DQ34631519-A1087947-5D47-464F-BBD0-DCE142856DC7Q35889282-B88DFAD4-96C2-480F-B700-D8CAB453474BQ35946291-54E18E77-8C9B-45A5-AD15-731BEA6B538BQ36019357-297E7328-F09C-4A86-ACB7-AFDD4A24755AQ36245476-BD7C0A55-62FA-47C9-96DA-CB770E37D7FEQ36382344-AE24C4C0-2254-4B54-A0C1-3FF357A60E81Q36804757-48823016-8091-4311-A3F7-369BB2D2EACFQ37114674-E9F603A8-0CB5-45E5-A43A-D00BE8B23A6DQ37573604-03F40535-CFD9-42D5-9F80-94376ADD3A2EQ37630030-4C3C7A7A-68C3-40F6-85D4-1D15EEAC204AQ38068938-3675D17D-869C-401C-AE6D-3E5941E7986DQ38115297-58B40811-AA94-42C5-A343-42E7DD303968Q41921481-8227887F-52E2-410E-8D67-1B924631C9BCQ42243551-348443CD-2864-47B4-B829-F1E757838093Q42682372-7EF2190D-35D9-4464-8EC2-D6BE0F0123C7Q44357532-96DF7791-6EC0-4135-A3FF-0B8C3DD09986Q46449782-4AA7818F-214A-4058-BE62-44BECB197AB4Q48636884-81758B95-BF57-4820-86A2-6AFFF23BF184Q50304662-C6BD7FE7-FC96-4CB7-8B93-C66DC52A7CA3Q52553324-67184F89-6CAC-4C2D-BEF2-6B5528B36CFAQ53282580-34F3D89B-94C8-4988-9A4A-7256A19EF884Q53286902-C57393EE-426D-4618-9EA2-4BEB5C9495FCQ58612547-ED9B3C89-83B8-4989-9B60-5681DF20717DQ58612720-EE261D96-5451-4B1B-8BE0-9E1B04A224FD
P2860
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.
description
2000 nî lūn-bûn
@nan
2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Disease associated balanced ch ...... -phenotype delineation in man.
@ast
Disease associated balanced ch ...... -phenotype delineation in man.
@en
type
label
Disease associated balanced ch ...... -phenotype delineation in man.
@ast
Disease associated balanced ch ...... -phenotype delineation in man.
@en
prefLabel
Disease associated balanced ch ...... -phenotype delineation in man.
@ast
Disease associated balanced ch ...... -phenotype delineation in man.
@en
P2093
P2860
P356
P1476
Disease associated balanced ch ...... -phenotype delineation in man.
@en
P2093
C Lundsteen
G Bruun-Petersen
K Brøndum-Nielsen
K R Rasmussen
K Rasmussen
N Tommerup
P2860
P304
P356
10.1136/JMG.37.11.858
P407
P577
2000-11-01T00:00:00Z