Search Results - "Phornphutkul, Chanika"

Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample by Moreno-De-Luca, Daniel, Kavanaugh, Brian C, Best, Carrie R, Sheinkopf, Stephen J, Phornphutkul, Chanika, Morrow, Eric M

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder by Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G., Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan

“…GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear…”
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Congenital Hypothyroidism with a Delayed Thyroid-Stimulating Hormone Elevation in Very Premature Infants: Incidence and Growth and Developmental Outcomes by Woo, Hyung Chul, MD, Lizarda, Ariel, BS, Tucker, Richard, BA, Mitchell, Marvin L., MD, Vohr, Betty, MD, Oh, William, MD, Phornphutkul, Chanika, MD

“…Objective To test the hypothesis that very low birth weight (VLBW) and extremely low birth weight (ELBW) infants have an increased incidence of congenital…”
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Ochronotic Chondropathy: A Case Report by Littman, Jake, Pietro, John, Olansen, Jon, Phornphutkul, Chanika, Aaron, Roy K

“…Endogenous ochronosis, also known as alkaptonuria, is a rare disease known for its bluish-black discoloration of the skin, sclerae, and pinnae, as well as…”
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Noonan Syndrome and Celiac Disease in an Adolescent With Short Stature and Delayed Puberty by Lee, Justin, Pillai, Sabitha Sasidharan, Ganta, Avani, Phornphutkul, Chanika, Quintos, Jose Bernardo

“…We present an adolescent male with Noonan syndrome (NS) and celiac disease (CD) who attained normal adult height with growth hormone (GH) treatment and…”
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Sporadic uterine Lymphangioleiomyomatosis (LAM): Report of a unique case arising in the lower uterine segment with short review by Pongsuvareeyakul, Tip, Maleki, Sara, DeNardo, Bradley D., Dizon, Don S., Phornphutkul, Chanika, Singh, Kamaljeet

“…•Extrapulmonary lymphangioleiomyomatosis is rare and can be associated with tuberous sclerosis.•Recognition of lymphangioleiomyomatosis is important for early…”
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De novo and biallelic DEAF1 variants cause a phenotypic spectrum by Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P.M., de Vries, Bert B.A., Vulto-vanSilfhout, Anneke T.

“…To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1…”
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The mechanism of ascorbic acid-induced differentiation of ATDC5 chondrogenic cells by Temu, Tecla M, Wu, Ke-Ying, Gruppuso, Philip A, Phornphutkul, Chanika

“…The ATDC5 cell line exhibits a multistep process of chondrogenic differentiation analogous to that observed during endochondral bone formation. Previous…”
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mTOR signaling contributes to chondrocyte differentiation by Phornphutkul, Chanika, Wu, Ke‐Ying, Auyeung, Valerie, Chen, Qian, Gruppuso, Philip A.

“…The mammalian Target Of Rapamycin (mTOR) is a nutrient‐sensing protein kinase that regulates numerous cellular processes. Fetal rat metatarsal explants were…”
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Long-term follow-up of well-treated nephropathic cystinosis patients by Kleta, Robert, Bernardini, Isa, Ueda, Masako, Varade, William S., Phornphutkul, Chanika, Krasnewich, Donna, Gahl, William A.

“…We report the excellent clinical outcomes of siblings with nephropathic cystinosis treated diligently with cysteamine starting at 20 months and 2 months of…”
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EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION by Fredette, Meghan E, Cusmano, Katelyn, Phornphutkul, Chanika, Schwab, Jennifer, Caldamone, Anthony, Topor, Lisa Swartz

“…Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the gene, a…”
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The effect of rapamycin on bone growth in rabbits by Phornphutkul, Chanika, Lee, Mark, Voigt, Cliff, Wu, Ke-Ying, Ehrlich, Michael G., Gruppuso, Philip A., Chen, Qian

“…mTOR is a nutrient‐sensing protein kinase that regulates numerous cellular processes. Our prior studies using the mTOR inhibitor, rapamycin, indicate an…”
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NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS by Fredette, Meghan E, Lombardi, Kristin C, Duker, Angela L, Buck, Catherine O, Phornphutkul, Chanika, Bober, Michael B, Quintos, Jose Bernardo

“…Microcephalic primordial dwarfism (MPD) is a group of clinically and genetically heterogeneous disorders which result in severe prenatal and postnatal growth…”
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Insulin-like growth factor-I signaling is modified during chondrocyte differentiation by Phornphutkul, Chanika, Wu, Ke-Ying, Yang, Xu, Chen, Qian, Gruppuso, Philip A

“…Insulin-like growth factor-I (IGF-I) is a critical regulator of skeletal growth. While IGF-I has been shown to be a potent chondrocyte mitogen in vitro, its…”
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Large Scale Next Generation Sequencing and Newborn Screening: Are We Ready? by Phornphutkul, Chanika, Padbury, James

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N-acetylneuraminate pyruvate lyase deficiency: An emerging metabolic disorder of sialic acid catabolism by Horowitch, Brooke, Phornphutkul, Chanika, Brown, William, Brucker, William

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Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation by Introne, Wendy J, Phornphutkul, Chanika, Bernardini, Isa, McLaughlin, Kevin, Fitzpatrick, Diana, Gahl, William A

“…In alkaptonuria, homogentisate 1,2-dioxygenase deficiency causes tissue accumulation of homogentisic acid (HGA), followed by signs and symptoms of ochronosis…”
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Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child by Kingrey, Brandon, Phornphutkul, Chanika, Chen, Wendy

“…We report a case of confirmed Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with suspected optic nerve hypoplasia, corpus callosum agenesis, and low…”
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K475E PRKAG2 Mutation: Cardiac Phenotype and Targeted Therapy Using Rapamycin by Tseng, Yi‐Tang, Wang, Zhengke, Padbury, James, Phornphutkul, Chanika

“…Background We identified a novel mutation (K475E) in PRKAG2, coding for protein kinase AMP‐activated non‐catalytic subunit γ2, during a 27‐week prenatal…”
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LRP5, Bone Mass Polymorphisms and Skeletal Disorders by Littman, Jake, Yang, Wentian, Olansen, Jon, Phornphutkul, Chanika, Aaron, Roy K

“…The formation and maintenance of the gross structure and microarchitecture of the human skeleton require the concerted functioning of a plethora of morphogenic…”
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