Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate
about
Functional characterization of CLPTM1L as a lung cancer risk candidate gene in the 5p15.33 locusTesting reported associations of genetic risk factors for oral clefts in a large Irish study populationMeta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle traffickingMutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate.Replication study in Chinese population and meta-analysis supports association of the 5p15.33 locus with lung cancer.Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34Whole exome sequencing in females with autism implicates novel and candidate genes.The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypesA comprehensive review of the genetic basis of cleft lip and palateOrofacial clefting: recent insights into a complex traitCLPTM1L genetic polymorphisms and interaction with smoking and alcohol drinking in lung cancer risk: a case-control study in the Han population from northwest China.Progress toward discerning the genetics of cleft lipGenetic Factors and Orofacial Clefting.Identification of functional marker proteins in the mammalian growth cone.Genetics of cleft lip and cleft palate.Genomic approaches for studying craniofacial disorders.Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation.BCL3 gene role in facial morphology.MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.Genetic evidence for the role of loci at 19q13 in cleft lip and palate.N-Glycan-dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing.Clptm1 Limits Forward Trafficking of GABAA Receptors to Scale Inhibitory Synaptic Strength.Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.A genome wide linkage scan for cleft lip and palate and dental anomalies
P2860
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P2860
Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Characterization of a novel ge ...... mily with cleft lip and palate
@ast
Characterization of a novel ge ...... mily with cleft lip and palate
@en
Characterization of a novel ge ...... mily with cleft lip and palate
@en-gb
Characterization of a novel ge ...... mily with cleft lip and palate
@nl
type
label
Characterization of a novel ge ...... mily with cleft lip and palate
@ast
Characterization of a novel ge ...... mily with cleft lip and palate
@en
Characterization of a novel ge ...... mily with cleft lip and palate
@en-gb
Characterization of a novel ge ...... mily with cleft lip and palate
@nl
prefLabel
Characterization of a novel ge ...... mily with cleft lip and palate
@ast
Characterization of a novel ge ...... mily with cleft lip and palate
@en
Characterization of a novel ge ...... mily with cleft lip and palate
@en-gb
Characterization of a novel ge ...... mily with cleft lip and palate
@nl
P2093
P3181
P356
P1433
P1476
Characterization of a novel ge ...... mily with cleft lip and palate
@en
P2093
J C Murray
K Yoshiura
L K Ashworth
P304
P3181
P356
10.1006/GENO.1998.5577
P407
P577
1998-12-01T00:00:00Z