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A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome

artículo científico publicado en 2015

A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome

artículo científico publicado en 2019

A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling

scientific article published on 20 August 2006

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

scientific article published on 01 April 2000

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.

artículo científico publicado en 2012

A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel

artículo científico publicado en 2017

A novel PITX2 mutation in non-syndromic oro-dental anomalies.

artículo científico publicado en 2017

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

artículo científico publicado en 2017

A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia

scientific article published on 14 May 2019

A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple endocrine neoplasia type 1

scientific article published on 13 May 2005

A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.

artículo científico publicado en 2007

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

artículo científico publicado en 2019

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.

artículo científico publicado en 2014

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

artículo científico publicado en 2015

Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry.

artículo científico publicado en 2018

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

artículo científico publicado en 1999

Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells

artículo científico publicado en 2018

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

artículo científico publicado en 2015

Association of CD247 with systemic lupus erythematosus in Asian populations

article

Bilateral pheochromocytoma during the postpartum period.

artículo científico publicado en 2009

Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population.

artículo científico publicado en 2008

Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

artículo científico publicado en 2013

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

artículo científico

Cole-Carpenter syndrome in a patient from Thailand

scientific article published on 31 July 2018

Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.

artículo científico publicado en 2018

Concurrent bilateral pheochromocytoma and thoracic paraganglioma during pregnancy.

artículo científico publicado en 2010

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

DcR3 mutations in patients with juvenile-onset systemic lupus erythematosus lead to enhanced lymphocyte proliferation.

artículo científico publicado en 2013

De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome

artículo científico publicado en 2005

Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation

scientific article published on 29 July 2019

Dental Properties, Ultrastructure, and Pulp Cells Associated With a Novel DSPP Mutation.

artículo científico publicado en 2017

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

artículo científico publicado en 1999

Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation

artículo científico publicado en 2019

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

artículo científico publicado en 2013

Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.

artículo científico publicado en 2002

Evidence for Locus Heterogeneity in Puerto Ricans with Hermansky-Pudlak Syndrome ⬇️

artículo científico publicado el 1 de noviembre de 1997

Expanding phenotypic spectrum of familial comedones

artículo científico publicado en 2014

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.

artículo científico publicado en 2018

Expanding the phenotypic spectrum of Caffey disease

scientific article published on 01 March 2007

Expression of mammaglobins A and B in nasal polyps is similar in patients with and without allergic rhinitis.

artículo científico publicado en 2008

FOXE1 mutations in Thai patients with oral clefts.

artículo científico publicado en 2013

Female-restricted syndromic intellectual disability in a patient from Thailand

artículo científico publicado en 2019

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

scientific article published on 24 September 2020

Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia.

artículo científico publicado en 2012

Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.

artículo científico publicado en 2010

Gene-based meta-analysis of genome-wide association study data identifies independent single-nucleotide polymorphisms in ANXA6 as being associated with systemic lupus erythematosus in Asian populations.

artículo científico publicado en 2015

Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virus

scientific article published on 29 June 2019

Genetic basis of sudden death after COVID-19 vaccination in Thailand

artículo científico publicado en 2022

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

scientific article published on 01 April 1998

Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations

artículo científico publicado en 2015

Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders

artículo científico publicado en 2019

Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease

artículo científico publicado en 2014

HLA-B* 1502 screening: time to clinical practice.

artículo científico publicado en 2010

HLAreporter: a tool for HLA typing from next generation sequencing data

artículo científico publicado en 2015

Hermansky-Pudlak syndrome: models for intracellular vesicle formation

scientific article published on 01 October 1998

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

artículo científico

Human asparagine synthetase associates with the mitotic spindle

artículo científico publicado en 2018

Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.

artículo científico publicado en 2008

In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotides

artículo científico publicado en 2014

Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.

artículo científico publicado en 2002

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

artículo científico publicado en 2016

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population

artículo científico publicado en 2006

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

artículo científico publicado en 2017

Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus.

artículo científico publicado en 2014

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

artículo científico publicado en 2017

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene

artículo científico publicado en 2017

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

article

NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia.

artículo científico publicado en 2015

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

artículo científico publicado en 2006

Noonan syndrome in diverse populations.

artículo científico publicado en 2017

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.

artículo científico publicado en 1998

Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis.

artículo científico publicado en 2013

Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.

artículo científico publicado en 2012

Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.

artículo científico publicado en 2016

Novel Variants and Phenotypes in <i>NEUROG3</i>-Associated Syndrome

artículo científico publicado en 2022

Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

artículo científico publicado en 2018

Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia

scientific article published on 10 September 2018

Novel mutations in Thai patients with glanzmann thrombasthenia.

artículo científico publicado en 2017

Novel mutations in a Thai patient with methylmalonic acidemia.

artículo científico publicado en 2003

Novel mutations in the FUCA1 gene that cause fucosidosis.

artículo científico publicado en 2016

Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.

artículo científico publicado en 2009

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

artículo científico publicado en 2016

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

scientific article published on 01 July 2004

PDGFRa mutations in humans with isolated cleft palate.

artículo científico publicado en 2012

PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.

artículo científico publicado en 2006

PTPRF is disrupted in a patient with syndromic amastia ⬇️

artículo científico publicado el 31 de marzo de 2011

Pallister-Hall syndrome with hypoparathyroidism

artículo científico publicado en 2004

Pathogenic mechanism of mutations in the thyroid hormone receptor β gene

artículo científico publicado en 2011

Pharmacogenetic screening of carbamazepine-induced severe cutaneous allergic reactions.

artículo científico

Pharmacogenetic testing can identify patients taking atazanavir at risk for hyperbilirubinemia.

artículo científico publicado en 2015

Precision medicine in Thailand

scientific article published on 19 March 2019

Prenatal diagnosis of Pompe disease by electron microscopy

artículo científico publicado en 2004

Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease.

artículo científico publicado en 2009

Prenatal exclusion of subtelomeric deletion 1p by fluorescent in situ hybridization

artículo científico publicado en 2006

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

artículo científico publicado en 2012

Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.

artículo científico publicado en 2000

Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.

artículo científico publicado en 2015

Risk factors associated with the occurrence of frontoethmoidal encephalomeningocele

scientific article published on 14 September 2007

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.

artículo científico publicado en 2011

Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation

artículo científico publicado en 2017

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report

artículo científico publicado en 2016

Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population

artículo científico publicado en 2005

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.

artículo científico publicado en 2016

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate.

artículo científico publicado en 2008

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.

artículo científico publicado en 2007

Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 --> 9pter and deletion of 9q34.3.

scientific article published on 01 September 2006

The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

artículo científico publicado en 2018

The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency

scientific article published on 14 September 2018

Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations ⬇️

artículo científico publicado el 1 de junio de 1998

Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians.

artículo científico publicado en 2013

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome

scientific article published on 01 November 2009

Two common and three novel PDS mutations in Thai patients with Pendred syndrome

artículo científico publicado en 2007

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

artículo científico publicado en 2017

Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome

scientific article published on 01 July 2005

Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy

artículo científico publicado en 2014

Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

scientific article published on 18 March 2011

Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population.

artículo científico publicado en 2016

Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities

artículo científico publicado en 2019

Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy

artículo científico publicado en 2014

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita

artículo científico publicado en 2016

Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria

artículo científico publicado en 2018

Williams–Beuren syndrome in diverse populations

artículo científico publicado en 2018

Wiskott-Aldrich syndrome iPS cells produce megakaryocytes with defects in cytoskeletal rearrangement and proplatelet formation.

artículo científico publicado en 2014

ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.

artículo científico publicado en 2014

p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.

artículo científico publicado en 2010

rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis

scientific article published on 17 May 2018

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