Duangrurdee Wattanasirichaigoon : rechercher sur Z-Library

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Livres
Articles (43)
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Successful pregnancy outcome in HerlynâWernerâWunderlich syndrome with pyocolpos: A case report and literature review

Tangshewinsirikul, Chayada, Dulyaphat, Wirada, Diawtipsukon, Sanpon, Tingthanatikul, Yada, Satirapod, Chonthicha, Wattanasirichaigoon, Duangrurdee

Journal:

Clinical Case Reports

Année:

2020

Fichier:

PDF, 495 KB

2020

Sodium channel abnormalities are infrequent in patients with long QT Syndrome: Identification of two novelSCN5A mutations

Wattanasirichaigoon, Duangrurdee, Vesely, Mark R., Duggal, Priya, Levine, Jami C., Blume, Elizabeth D., Wolff, Grace S., Edwards, Sam B., Beggs, Alan H.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 323 KB

english, 1999

Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases

Duangrurdee Wattanasirichaigoon, Chitra Prasad, Gretchen Schneider, Jane A. Evans, Bruce R. Korf

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 130 KB

english, 2003

A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies

Thipwimol Tim-aroon, Suphaneewan Jaovisidha, Duangrurdee Wattanasirichaigoon

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 684 KB

english, 2011

Haplotypes ofIL12Bpromoter polymorphisms condition susceptibility to severe malaria and functional changes in cytokine levels in Thai adults

Chintana Phawong, Collins Ouma, Piyatida Tangteerawatana, Jarinee Thongshoob, Tom Were, Yuvadee Mahakunkijcharoen, Duangrurdee Wattanasirichaigoon, Douglas Jay Perkins, Srisin Khusmith

Journal:

Immunogenetics

Année:

2010

Langue:

english

Fichier:

PDF, 219 KB

english, 2010

Four novel and three recurrent mutations of theBTKgene and pathogenic effects of putative splice mutations

Duangrurdee Wattanasirichaigoon, Suwat Benjaponpitak, Chonnamet Techasaensiri, Wasu Kamchaisatian, Pakit Vichyanond, Sucheela Janwityanujit, Lulin Choubtum, Sayomporn Sirinavin

Journal:

Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 388 KB

english, 2006

Pericardial effusion in primary systemic carnitine deficiency

Duangrurdee Wattanasirichaigoon, Pongsak Khowsathit, Anannit Visudtibhan, Umaporn Suthutvoravut, Dussadee Charoenpipop, Sook Z. Kim, Harvey L. Levy, Vivian E. Shih

Journal:

Journal of Inherited Metabolic Disease

Année:

2006

Langue:

english

Fichier:

PDF, 138 KB

english, 2006

10.1038/13837

Laing, Nigel G., Nowak, Kristen J., Wattanasirichaigoon, Duangrurdee, Goebel, Hans H., Wilce, Matthew, Pelin, Katarina, Donner, Kati, Jacob, Rebecca L., Hübner, Christoph, Oexle, Konrad, Anderson, Jan

Journal:

Nature Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 538 KB

english, 1999

10.1038/7675

North, Kathryn N., Yang, Nan, Wattanasirichaigoon, Duangrurdee, Mills, Michelle, Easteal, Simon, Beggs, Alan H.

Journal:

Nature Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 480 KB

english, 1999

A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2–q22.1 with complex translocation t(8;20) in a family with intellectual disability

Anunchai Assawamakin, Duangrurdee Wattanasirichaigoon, Chintana Tocharoentanaphol, Supaporn Waeteekul, Montakarn Tansatit, Wanna Thongnoppakhun, Chanin Limwongse

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2012

Distal Renal Tubular Acidosis Associated With Anion Exchanger 1 Mutations in Children in Thailand

Sookkasem Khositseth, Apiwan Sirikanerat, Kulruedee Wongbenjarat, Sauwalak Opastirakul, Siri Khoprasert, Ratikorn Peuksungnern, Duangrurdee Wattanasirichaigoon, Wanna Thongnoppakhun, Vip Viprakasit, P

Journal:

American Journal of Kidney Diseases

Année:

2007

Langue:

english

Fichier:

PDF, 641 KB

english, 2007

Prevalence of significant QTc prolongation and long QT syndrome in adolescents with syncope

Anant Khositseth, Duangrurdee Wattanasirichaigoon, Suwanna Ruangkanchanasetr

Journal:

International Journal of Cardiology

Année:

2009

Langue:

english

Fichier:

PDF, 124 KB

english, 2009

Decreasing Activity and Altered Protein Processing of Human Iduronate-2-sulfatase Mutations Demonstrated by Expression in COS7 Cells

Charoenwattanasatien, Ratana, Cairns, James R. Ketudat, Keeratichamroen, Siriporn, Sawangareetrakul, Phannee, Tanpaiboon, Pranoot, Wattanasirichaigoon, Duangrurdee, Pangkanon, Suthipong, Svasti, Jisnu

Journal:

Biochemical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 318 KB

english, 2012

Stroke in children

Visudhiphan Pongsakdi, Wattanasirichaigoon Duangrurdee, Chiemchanya Surang

Journal:

Pediatric Neurology

Année:

1994

Langue:

english

Fichier:

PDF, 117 KB

english, 1994

Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2)

Wattanasirichaigoon, Duangrurdee, Suwannarat, Pim, Thongpradit, Supranee

Journal:

Journal of Dermatological Science

Année:

2008

Langue:

english

Fichier:

PDF, 653 KB

english, 2008

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence andSLC25A13mutations among thai infants

Suporn Treepongkaruna, Suttiruk Jitraruch, Porawee Kodcharin, Dussadee Charoenpipop, Pim Suwannarat, Paneeya Pienvichit, Keiko Kobayashi, Duangrurdee Wattanasirichaigoon

Journal:

BMC Gastroenterology

Année:

2012

Langue:

english

Fichier:

PDF, 251 KB

english, 2012

Prediction of the functional effect of novelSLC25A13variants using aS. cerevisiaemodel of AGC2 deficiency

Wongkittichote, Parith, Tungpradabkul, Sumalee, Wattanasirichaigoon, Duangrurdee, Jensen, Laran T.

Journal:

Journal of Inherited Metabolic Disease

Année:

2013

Langue:

english

Fichier:

PDF, 440 KB

english, 2013

Medical students themselves as surrogate patients increased satisfaction, confidence, and performance in practicing injection skill

Chunharas, Amornsri, Hetrakul, Priyasuda, Boonyobol, Rattanaporn, Udomkitti, Thitiporn, Tassanapitikul, Teerarat, Wattanasirichaigoon, Duangrurdee

Journal:

Medical Teacher

Année:

2013

Langue:

english

Fichier:

PDF, 121 KB

english, 2013

Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy

Katarina Pelin, Pirta Hilpela, Kati Donner, Caroline Sewry, Patrick A. Akkari, Stephen D. Wilton, Duangrurdee Wattanasirichaigoon, Marie-Louise Bang, Thomas Centner, Folker Hanefeld, Sylvie Odent, Mic

Journal:

Proceedings of the National Academy of Sciences

Année:

1999

Langue:

english

Fichier:

PDF, 1.87 MB

english, 1999

5′UTR Repeat Polymorphisms of the BMPR2 gene in Children with Pulmonary Hypertension associated with Congenital Heart Disease

Limsuwan, Alisa, Choubtum, Lulin, Wattanasirichaigoon, Duangrurdee

Journal:

Heart Lung & Circulation

Année:

2013

Langue:

english

Fichier:

PDF, 462 KB

english, 2013

A common and two novel GBA mutations in Thai patients with Gaucher disease

Tammachote, Rachaneekorn, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Phipatthanananti, Kampon, Pungkanon, Suthipong, Wattanasirichaigoon, Duangrurdee, Suphapeetiporn, Kanya, Shotelersuk, Voras

Journal:

Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2013

Carnitine levels and cardiac functions in children with solid malignancies receiving doxorubicin therapy

Khositseth, Anant, Jirasakpisarn, Suwadee, Pakakasama, Samart, Choubtuym, Lulin, Wattanasirichaigoon, Duangrurdee

Journal:

Indian Journal of Medical and Paediatric Oncology

Année:

2011

Langue:

english

Fichier:

PDF, 564 KB

english, 2011

Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis

Dejkhamron, Prapai, Wejapikul, Karn, Unachak, Kevalee, Sawangareetrakul, Phannee, Tanpaiboon, Pranoot, Wattanasirichaigoon, Duangrurdee

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 413 KB

english, 2015

Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports

Preutthipan, Aroonwan, Kuptanon, Teeradej, Kamalaporn, Harutai, Leejakpai, Anchalee, Nugboon, Malinee, Wattanasirichaigoon, Duangrurdee

Journal:

Journal of Medical Case Reports

Année:

2015

Langue:

english

Fichier:

PDF, 1.71 MB

english, 2015

A Novel Mutation of Cystathionine β-synthase Gene in a Thai Boy With Homocystinuria

Sirachainan, Nongnuch, Wattanasirichaigoon, Duangrurdee, Suwannarat, Pim, Sasanakul, Werasak, Chuansumrit, Ampaiwan

Journal:

Journal of Pediatric Hematology/Oncology

Année:

2009

Langue:

english

Fichier:

PDF, 273 KB

english, 2009

Molecular genetics of long-QT syndrome

Wattanasirichaigoon, Duangrurdee, Beggs, Alan H.

Journal:

Current Opinion in Pediatrics

Année:

1998

Fichier:

PDF, 4.95 MB

1998

Novel Missense Mutations of SAR1B Gene in an Infant With Chylomicron Retention Disease

Treepongkaruna, Suporn, Chongviriyaphan, Nalinee, Suthutvoravut, Umaporn, Charoenpipop, Dussadee, Choubtum, Lulin, Wattanasirichaigoon, Duangrurdee

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Année:

2009

Langue:

english

Fichier:

PDF, 170 KB

english, 2009

Expanding the phenotypic spectrum of Lenz???Majewski syndrome: facial palsy, cleft palate and hydrocephalus

Wattanasirichaigoon, Duangrurdee, Visudtibhan, Anannit, Jaovisidha, Suphaneewan, Laothamatas, Jiraporn, Chunharas, Amornsri

Journal:

Clinical Dysmorphology

Année:

2004

Langue:

english

Fichier:

PDF, 324 KB

english, 2004

1q21.3 deletion involving GATAD2B : An emerging recurrent microdeletion syndrome

Tim-Aroon, Thipwimol, Jinawath, Natini, Thammachote, Weerin, Sinpitak, Praweena, Limrungsikul, Anchalee, Khongkhatithum, Chaiyos, Wattanasirichaigoon, Duangrurdee

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 326 KB

english, 2017

A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response

Zhang, Wujuan, Byrd, Melissa, Prada, Carlos E., Schwartz, Ida Vanessa D., Chutipongtanate, Somchai, Wattanasirichaigoon, Duangrurdee, Inskeep, Venette, Dai, Mei, Pan, Dao, Sun, Ying, Setchell, K. D. R

Journal:

The Analyst (Royal Society of Chemistry)

Année:

2017

Langue:

english

Fichier:

PDF, 566 KB

english, 2017

Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay

Ngiwsara, Lukana, Rojnueangnit, Kitiwan, Wattanasirichaigoon, Duangrurdee, Tim‑Aroon, Thipwimol, Sawangareetrakul, Phannee, Champattanachai, Voraratt, Ketudat‑Cairns, James R., Svasti, Jisnuson

Journal:

Experimental and Therapeutic Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2017

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

Thiboonboon, Kittiphong, Leelahavarong, Pattara, Wattanasirichaigoon, Duangrurdee, Vatanavicharn, Nithiwat, Wasant, Pornswan, Shotelersuk, Vorasuk, Pangkanon, Suthipong, Kuptanon, Chulaluck, Chaisomch

Journal:

PLoS ONE

Année:

2015

Langue:

english

Fichier:

PDF, 1.59 MB

english, 2015

Two infants with abetalipoproteinemia: Classic versus atypical presentation

Prachasitthisak, Noparat, Tanpowpong, Pornthep, Tim‐Aroon, Thipwimol, Treepongkaruna, Suporn, Chongviriyaphan, Nalinee, Vithayasai, Niyada, Iamopas, Orawan, Wattanasirichaigoon, Duangrurdee

Journal:

Pediatrics International

Année:

2019

Langue:

english

Fichier:

PDF, 93 KB

english, 2019

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

Suwannachat, Sukrit, Wattanasirichaigoon, Duangrurdee, Arunakul, Jiraporn, Chirdkiatgumchai, Vilawan, Tim-Aroon, Thipwimol

Journal:

Journal of Community Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 716 KB

english, 2019

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Ngiwsara, Lukana, Wattanasirichaigoon, Duangrurdee, Tim-Aroon, Thipwimol, Rojnueangnit, Kitiwan, Noojaroen, Saisuda, Khongkraparn, Arthaporn, Sawangareetrakul, Phannee, Ketudat-Cairns, James R., Charo

Journal:

BMC Medical Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2019

Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing

Rojnueangnit, Kitiwan, Sirichongkolthong, Boonchu, Wongwandee, Ratthapon, Khetkham, Thanitchet, Noojarern, Saisuda, Khongkraparn, Arthaporn, Wattanasirichaigoon, Duangrurdee

Journal:

Pediatric Cardiology

Année:

2019

Langue:

english

Fichier:

PDF, 931 KB

english, 2019

Over-expression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p

Chalermwat, Chalongchai, Thosapornvichai, Thitipa, Wongkittichote, Parith, Phillips, John D, Cox, James E, Jensen, Amornrat N, Wattanasirichaigoon, Duangrurdee, Jensen, Laran T

Journal:

FEMS Yeast Research

Année:

2019

Langue:

english

Fichier:

PDF, 2.10 MB

english, 2019

Over-expression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p

Chalermwat, Chalongchai, Thosapornvichai, Thitipa, Wongkittichote, Parith, Phillips, John D, Cox, James E, Jensen, Amornrat N, Wattanasirichaigoon, Duangrurdee, Jensen, Laran T

Journal:

FEMS Yeast Research

Année:

2019

Fichier:

PDF, 2.10 MB

2019

Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

Suwannachat, Sukrit, Wattanasirichaigoon, Duangrurdee, Arunakul, Jiraporn, Chirdkiatgumchai, Vilawan, Tim-Aroon, Thipwimol

Journal:

Journal of Community Genetics

Année:

2019

Fichier:

PDF, 142 KB

2019

Successful parathyroidectomy with intra‐operative parathyroid hormone monitoring in a neonate with severe primary hyperparathyroidism caused by homozygous mutation in CASR gene

Sorapipatcharoen, Kinnaree, Mahachoklertwattana, Pat, Tim‐Aroon, Thipwimol, Wattanasirichaigoon, Duangrurdee, Karanes, Sathit, Molagool, Sani, Poomthavorn, Preamrudee

Journal:

Journal of Paediatrics and Child Health

Année:

2019

Fichier:

PDF, 387 KB

2019

Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency

Chalermwat, Chalongchai, Thosapornvichai, Thitipa, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee

Journal:

Diseases

Année:

2020

Langue:

english

Fichier:

PDF, 5.77 MB

english, 2020

Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare coâoccurrence from Thailand

Phetthong, Tim, TimâAroon, Thipwimol, Khongkrapan, Arthaporn, Poomthavorn, Preamrudee, Wattanasirichaigoon, Duangrurdee

Journal:

American Journal of Medical Genetics Part A

Année:

2020

Fichier:

PDF, 738 KB

2020

Genotype and age at diagnosis in Thai boys with Duchenne muscular dystrophy (DMD)

Yamputchong, Pattareeya, Pho-iam, Theeraphong, Limwongse, Chanin, Wattanasirichaigoon, Duangrurdee, Sanmaneechai, Oranee

Journal:

Neuromuscular Disorders

Année:

2020

Fichier:

PDF, 446 KB

2020