Works matching AU Phornphutkul, Chanika

Results: 20

LRP5, Bone Mass Polymorphisms and Skeletal Disorders.

Published in:

Genes, 2023, v. 14, n. 10, p. 1846, doi. 10.3390/genes14101846

By:

Littman, Jake;
Yang, Wentian;
Olansen, Jon;
Phornphutkul, Chanika;
Aaron, Roy K.

Publication type:

Article

Aromatase P450 Expression in a Feminizing Adrenal Adenoma Presenting as Isosexual Precocious Puberty.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 2, p. 649, doi. 10.1210/jcem.86.2.7201

By:

PHORNPHUTKUL, CHANIKA;
TOMOHARU OKUBO;
KEBIN WU;
HAREL, ZEEV;
TRACY JR., THOMAS F.;
PINAR, HALIT;
SHIUAN CHEN;
GRUPPUSO, PHILIP A.;
GOODWIN, GREGORY

Publication type:

Article

Changes in mTOR/4‐EBP1 pathway induced by a novel mutation in PRKAG2 gene (864.7).

Published in:

FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.864.7

By:

Xu, Yanchun;
Tseng, Yi‐Tang;
Padbury, James;
Kobashigawa, Laura C.;
Phornphutkul, Chanika;
Hardie, D. Grahame

Publication type:

Article

Permanent Neonatal Diabetes due to Mutations in KCNJ11Encoding Kir6.2.

Published in:

Diabetes, 2004, v. 53, n. 10, p. 2713, doi. 10.2337/diabetes.53.10.2713

By:

Sagen, Jørn V.;
Ræder, Helge;
Hathout, Eba;
Shehadeh, Naim;
Gudmundsson, Kolbeinn;
Bævre, Halvor;
Abuelo, Dianne;
Phornphutkul, Chanika;
Molnes, Janne;
Bell, Graeme I.;
Gloyn, Anna L.;
Hattersley, Andrew T.;
Molven, Anders;
Søvik, Oddmund;
Njølstad, Pål R.

Publication type:

Article

A Case of Galactosialidosis with Novel Mutations of the Protective Protein/Cathepsin A Gene: Diagnosis Prompted by Trophoblast Vacuolization on Placental Examination.

Published in:

2014

By:

KOSTADINOV, STEFAN;
SHAH, BIRJU A.;
ALROY, JOSEPH;
PHORNPHUTKUL, CHANIKA

Publication type:

Case Study

Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample.

Published in:

2020

By:

Moreno-De-Luca, Daniel;
Kavanaugh, Brian C.;
Best, Carrie R.;
Sheinkopf, Stephen J.;
Phornphutkul, Chanika;
Morrow, Eric M.

Publication type:

journal article

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 313, doi. 10.1111/cge.13877

By:

Tremblay‐Laganière, Camille;
Kaiyrzhanov, Rauan;
Maroofian, Reza;
Nguyen, Thi Tuyet Mai;
Salayev, Kamran;
Chilton, Ilana T.;
Chung, Wendy K.;
Madden, Jill A.;
Phornphutkul, Chanika;
Agrawal, Pankaj B.;
Houlden, Henry;
Campeau, Philippe M.

Publication type:

Article

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 490, doi. 10.1002/ajmg.a.63049

By:

Vocke, Cathy D.;
Fleming, Leah R.;
Piskorski, Anna M.;
Amin, Ali;
Phornphutkul, Chanika;
de la Monte, Suzanne;
Vilboux, Thierry;
Duncan, Folami;
Pellegrino, Joan;
Braddock, Bonnie;
Middelton, Lindsay A.;
Schmidt, Laura S.;
Merino, Maria J.;
Cowen, Edward W.;
Introne, Wendy J.;
Linehan, W. Marston;
Smith, Ann C. M.

Publication type:

Article

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2284, doi. 10.1002/ajmg.a.61322

By:

Kavanaugh, Brian C.;
Warren, Emily B.;
Baytas, Ozan;
Schmidt, Michael;
Merck, Derek;
Buch, Karen;
Liu, Judy S.;
Phornphutkul, Chanika;
Caruso, Paul;
Morrow, Eric M.

Publication type:

Article

The effect of rapamycin on bone growth in rabbits.

Published in:

Journal of Orthopaedic Research, 2009, v. 27, n. 9, p. 1157, doi. 10.1002/jor.20894

By:

Phornphutkul, Chanika;
Lee, Mark;
Voigt, Cliff;
Wu, Ke-Ying;
Ehrlich, Michael G.;
Gruppuso, Philip A.;
Chen, Qian

Publication type:

Article

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.

Published in:

2015

By:

Al-Sannaa, Nouriya A.;
Bay, Luisa;
Barbouth, Deborah S.;
Benhayoun, Youssef;
Goizet, Cyril;
Guelbert, Norberto;
Jones, Simon A.;
Kyosen, Sandra Obikawa;
Martins, Ana Maria;
Phornphutkul, Chanika;
Reig, Celia;
Pleat, Rebecca;
Fallet, Shari;
Holder, Iva Ivanovska;
Ivanovska Holder, Iva

Publication type:

journal article

PRKAG2 mutations presenting in infancy.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 823, doi. 10.1007/s10545-017-0072-0

By:

Torok, Rachel;
Austin, Stephanie;
Phornphutkul, Chanika;
Rotondo, Kathleen;
Bali, Deeksha;
Tatum, Gregory;
Wechsler, Stephanie;
Buckley, Anne;
Kishnani, Priya

Publication type:

Article

Response to Growth hormone deficiency in mitochondrial disorders.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 4, p. 483, doi. 10.1515/jpem-2017-0020

By:

Quintos, Jose Bernardo;
Hodax, Juanita K.;
Gonzales-Ellis, Bryn A.;
Phornphutkul, Chanika;
Wajnrajch, Michael P.;
Boney, Charlotte M.

Publication type:

Article

Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 2, p. 247, doi. 10.1515/jpem-2016-0342

By:

Hodax, Juanita K.;
Uysal, Serife;
Quintos, Jose Bernardo;
Phornphutkul, Chanika

Publication type:

Article

Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 11, p. 1319, doi. 10.1515/jpem-2016-0172

By:

Quintos, Jose Bernardo;
Hodax, Juanita K.;
Gonzales-Ellis, Bryn A.;
Phornphutkul, Chanika;
Wajnrajch, Michael P.;
Boney, Charlotte M.

Publication type:

Article

Ochronotic Chondropathy: A Case Report.

Published in:

Biomedicines, 2023, v. 11, n. 10, p. 2625, doi. 10.3390/biomedicines11102625

By:

Littman, Jake;
Pietro, John;
Olansen, Jon;
Phornphutkul, Chanika;
Aaron, Roy K.

Publication type:

Article

Growth and Neurodevelopmental Outcomes of Early, High-Dose Parenteral Amino Acid Intake in Very Low Birth Weight Infants: A Randomized Controlled Trial.

Published in:

2018

By:

Balakrishnan, Maya;
Jennings, Alishia;
Przystac, Lynn;
Phornphutkul, Chanika;
Tucker, Richard;
Vohr, Betty;
Stephens, Bonnie E.;
Bliss, Joseph M.

Publication type:

journal article

mTOR signaling contributes to chondrocyte differentiation.

Published in:

Developmental Dynamics, 2008, v. 237, n. 3, p. 702, doi. 10.1002/dvdy.21464

By:

Phornphutkul, Chanika;
Wu, Ke-Ying;
Auyeung, Valerie;
Chen, Qian;
Gruppuso, Philip A.

Publication type:

Article

Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.

Published in:

2019

By:

Gupta, Ashish;
Sanville, Julie;
Menz, Timothy;
Warner, Neil;
Muise, Aleixo M.;
Fiedler, Karoline;
Martín, Martín G.;
Padbury, James;
Phornphutkul, Chanika;
Sanchez-Esteban, Juan;
Cerezo, Carolina S.

Publication type:

journal article

Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.

Published in:

Orthopedic Research & Reviews, 2023, v. 15, p. 39, doi. 10.2147/ORR.S400111

By:

Littman, Jake;
Phornphutkul, Chanika;
Saade, Celine;
Katarincic, Julia;
Aaron, Roy

Publication type:

Article