Maternal uniparental disomy 7 in Silver-Russell syndrome.
about
Silver-Russell syndrome: genetic basis and molecular genetic testingSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiologygamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genomeIntrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia.Identification of a large novel imprinted gene cluster on mouse proximal chromosome 6.A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndromeEpigenetic and genetic diagnosis of Silver-Russell syndrome.Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposityTrisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.American College of Medical Genetics statement of diagnostic testing for uniparental disomyThe spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.Tissue-specific alternative polyadenylation at the imprinted gene Mest regulates allelic usage at Copg2Genome-wide methylation analysis in Silver-Russell syndrome patientsGrb10 and Grb14: enigmatic regulators of insulin action--and more?Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Genomic structure and parent-of-origin-specific methylation of Peg1.First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.Mit1/Lb9 and Copg2, new members of mouse imprinted genes closely linked to Peg1/Mest(1).Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest.Síndrome de Silver-Russell: relato de caso
P2860
Q21202882-A79B1D54-A378-4599-83B7-059F00A5BE86Q28079403-4F32BA4F-C7A3-4339-965C-7C6A1D463596Q28137721-0BBC7929-175B-4000-906E-5F2E606F4C6DQ33561817-C0D3B4A5-117A-4E6B-AF57-5A516F2C48C9Q33680910-9ED469B3-8C2B-4D25-ACBE-007BF02730E3Q34043745-AD5A0FC7-8BDC-4C14-B851-F86A7F7FE24FQ34142141-44EFF4FC-8BBA-4D04-95A1-D82FF6FED942Q34146198-A14BB3C6-F93E-4D7F-B35C-5BB46B21D482Q34281844-0C7711A3-19C3-4927-9ADF-9140FD50B05AQ34284044-92F7842B-DCD6-40A4-AB11-D87A7C44A408Q34421272-5EE5D090-2229-4B68-87F7-9D7EC2B8BC49Q34465575-2834F809-55DD-405D-95D6-6E33350B3E13Q34811053-46D25D58-34F2-41CA-9D9A-4FE2BAEDAEFFQ35034233-A0A81E47-23C1-4EAC-8684-FCE6EF71A8BAQ35431123-F227F6F3-FAA4-40E6-8872-3D40D9172B19Q35432666-CB3B5026-5265-4116-8508-674A92038417Q35780129-36EBF7F2-C913-44EF-85AF-8E382B252F87Q36056485-E1493441-BC55-49B5-8F66-24725A48649DQ36131371-7F03E570-7C42-4481-BD7B-5CAEBDF17E25Q36437105-4BC840EB-56FD-47E7-9FCC-20B2C820301EQ37886251-57076952-C005-4C58-A426-EDB59A6F6E8CQ38089794-5A21FB3A-D4F2-42E2-96A4-B4FD4E386D9FQ38944123-934510F9-C9DE-4A5F-A3A8-D4E2E9E6838BQ41090362-23048BFC-C90F-4E02-AF2C-550F231EA49DQ41845372-CC392478-F404-43CC-82C7-A70DA8F75597Q42200077-1FF882B2-9525-4991-9946-BAC4AA992A24Q47159823-4E3B9B16-E571-44B4-A66C-93CFEF459A5DQ47864302-1E111A34-C59E-4BB3-B948-ED936AE755D1Q48016474-DE0B33E9-E5E4-40E0-84E1-80D09CBDFE8DQ57278462-C1E0EFFC-A92E-44BB-B590-87CEC448216C
P2860
Maternal uniparental disomy 7 in Silver-Russell syndrome.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Maternal uniparental disomy 7 in Silver-Russell syndrome.
@ast
Maternal uniparental disomy 7 in Silver-Russell syndrome.
@en
type
label
Maternal uniparental disomy 7 in Silver-Russell syndrome.
@ast
Maternal uniparental disomy 7 in Silver-Russell syndrome.
@en
prefLabel
Maternal uniparental disomy 7 in Silver-Russell syndrome.
@ast
Maternal uniparental disomy 7 in Silver-Russell syndrome.
@en
P2093
P2860
P356
P1476
Maternal uniparental disomy 7 in Silver-Russell syndrome.
@en
P2093
Trembath RC
P2860
P356
10.1136/JMG.34.1.6
P407
P577
1997-01-01T00:00:00Z