Maternal uniparental disomy 22 has no impact on the phenotype.
about
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsMeiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restrictionDopamine D3 receptor gene: organization, transcript variants, and polymorphism associated with schizophreniaGenomic imprinting related to prenatal diagnosisFurther evidence of no association between Ser9Gly polymorphism of dopamine D3 receptor gene and schizophreniaMaternal uniparental disomy of chromosome 13 in a phenotypically normal childPrenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughterComplex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Dopamine receptor polymorphisms and drug response in schizophrenia.Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.Pharmacogenetics of dopamine receptors and response to antipsychotic drugs in schizophrenia--an update.A somatic origin of homologous Robertsonian translocations and isochromosomes.Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardationA fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testingMosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus.The molecular genetics of schizophrenia.A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.Uniparental disomy and genome imprinting: an overview.Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy?A critical review of genetic studies of schizophrenia. II. Molecular genetic studies.Association between schizophrenia and DRD3 or HTR2 receptor gene variants.Characterization of the 5' flanking region of the rat D(3) dopamine receptor gene.Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples.Meta-analysis of DRD3 gene and schizophrenia: ethnic heterogeneity and significant association in Caucasians.Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism.Uniparental disomy in congenital disorders: a prospective study.De novo Balanced Robertsonian Translocation rob(22;22)(q10;q10) in a Woman with Recurrent Pregnancy Loss: A Rare Case.Genetic Risk Factors for Schizophrenia
P2860
Q24676539-8E4ABFA2-F7A0-452A-9CEC-F75409A8C7BEQ24680385-78CADD30-556B-4CCB-A49E-CABF2611F1B4Q28283121-04409635-EA56-4C45-B3FB-A515047B5CE5Q28293794-391DBA38-07D9-440A-8F70-FDF1D736C901Q28303670-D309C843-1F57-48B8-B6AB-282CE2A2FD66Q33674786-CEC1753E-1688-44FB-9916-D8C19818138BQ33682758-6482035B-7342-46AE-B419-E068414DB328Q33785896-EDB3668E-9507-4920-9616-152E9F53A6B8Q34325126-8EDE6D84-C782-4719-A5E9-3A84869490B5Q34355260-C6CF3985-5849-4E49-8496-A208064BC840Q35446077-A8F1329A-46FC-4F57-AAD2-70A76BD37591Q35873691-945DE6F9-CB69-42CA-AC36-1EE479A1E3CBQ35889141-76F4195F-9759-40BD-8B64-AD05516CE99AQ35889456-DC509F8F-6C33-472F-92AB-13D09E1D78E3Q35889650-3737B27F-6D32-442C-B897-2092E49E87EEQ36488731-428BB4F3-7593-4AC8-A2E6-A76086981854Q36508656-786574E4-CD13-47EB-ADAE-05C745499BDFQ37193943-8C1C2239-4346-4C30-8D08-9514715B6CBDQ38476363-2F98E652-B090-4277-8E03-E9811BAF71D5Q40440957-4FB11179-3C2F-4AC6-8EB5-1E9A724893F3Q40749209-0EF2DE28-FDCC-449F-9FC7-92E0938C7D35Q40918320-7D4D1E49-63F8-4595-92DF-020DB5EFF51EQ41074063-476827CB-3EAD-4C66-8FD6-B9A35EF573E0Q41167620-3BD2CFD5-1525-4229-86B9-5EAC8871B994Q41167741-CBD50170-1C9E-428D-87CE-D14879F617A5Q41378723-C236AEEF-EBFE-4AAB-BA50-997522ECEF71Q43456491-3AA17133-8399-4876-9F76-DB8767CD1682Q43548201-ACE51AB5-4012-4EAB-8F85-90DD419B585AQ46481317-F8FA0FEC-0096-48AD-B471-579EF2FA60DFQ47800806-5C2B0CE2-6A98-4598-AB3E-915608F6EA3CQ50747465-00B638BD-80B3-4637-A939-ABD9381E09D9Q52013744-080F82E4-6917-44DA-BC7E-CE45BB7F8DB4Q52014173-5218BF86-E746-49F1-9FBB-A2FE4C777772Q55082502-5A7A86E8-9A0B-49E7-ACF0-F8C5594D831EQ58462791-198F859B-1E8C-423F-A76F-9BD7FCDDD754
P2860
Maternal uniparental disomy 22 has no impact on the phenotype.
description
1994 nî lūn-bûn
@nan
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
1994年论文
@zh
1994年论文
@zh-cn
name
Maternal uniparental disomy 22 has no impact on the phenotype.
@ast
Maternal uniparental disomy 22 has no impact on the phenotype.
@en
type
label
Maternal uniparental disomy 22 has no impact on the phenotype.
@ast
Maternal uniparental disomy 22 has no impact on the phenotype.
@en
prefLabel
Maternal uniparental disomy 22 has no impact on the phenotype.
@ast
Maternal uniparental disomy 22 has no impact on the phenotype.
@en
P2093
P2860
P356
P1476
Maternal uniparental disomy 22 has no impact on the phenotype.
@en
P2093
Bernasconi F
Robinson WP
Schinzel AA
Yüksel-Apak M
P2860
P356
10.1002/AJMG.1320540106
P407
P577
1994-01-01T00:00:00Z