Search Results - "Nebesio, Todd D"

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency by Balasubramanian, Ravikumar, Choi, Jin-Ho, Francescatto, Ludmila, Willer, Jason, Horton, Edward R., Asimacopoulos, Eleni P., Stankovic, Konstantina M., Plummer, Lacey, Buck, Cassandra L., Quinton, Richard, Nebesio, Todd D., Mericq, Veronica, Merino, Paulina M., Meyer, Brian F., Monies, Dorota, Gusella, James F., Tassan, Nada Al, Katsanis, Nicholas, Crowley, William F.

“…Inactivating mutations in chromodomain helicase DNA binding protein 7 ( CHD7 ) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated…”
Get full text

Diagnosis of adrenal insufficiency in eosinophilic esophagitis: The importance of timing of cortisol measurements in interpreting low-dose adrenocorticotropic hormone stimulation testing by Schoelwer, Melissa J., MD, Nebesio, Todd D., MD

Get full text

Newborn Screening Results in Children with Central Hypothyroidism by Nebesio, Todd D., MD, McKenna, Michael P., MD, Nabhan, Zeina M., MD, MSc, Eugster, Erica A., MD

“…Objective To investigate newborn screening results in children with congenital hypopituitarism, including central hypothyroidism, and to determine whether…”
Get full text

A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal by Cordes Selby, Susan, Iwata‐Otsubo, Aiko, Delk, Paula, Nebesio, Todd D., Gohil, Anisha, Matlock, Peggy, Torres‐Martinez, Wilfredo, Vance, Gail H.

“…Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a…”
Get full text

Characteristics of Patients with Classic Congenital Adrenal Hyperplasia Missed on the Newborn Screen by Saroufim, Rita, Nebesio, Todd D, Eugster, Erica A

“…Newborn screening for congenital adrenal hyperplasia (CAH) has been in place in the USA for over 20 years. However, not all patients with classic CAH are…”
Get more information

Endocrine Effects of Inhaled Corticosteroids in Children by Kapadia, Chirag R, Nebesio, Todd D, Myers, Susan E, Willi, Steven, Miller, Bradley S, Allen, David B, Jacobson-Dickman, Elka

“…Inhaled corticosteroids (ICSs) are widely used as first-line treatment for various chronic respiratory illnesses. Advances in devices and formulations have…”
Get more information

What accounts for the variable responses to progesterone on Schwann cells from mice and humans-the species-specific influence or the paracrine effects from the tumor microenvironment? by Nebesio, Todd D., Chen, Shi, Yang, Feng-Chun

“…This Letter to the Editor Comments on: Analysis of steroid hormone effects on xenografted human NF1 tumor schwann cells Hua Li, Xuelian Zhang, Lauren Fishbein,…”
Get full text

Routine renal ultrasounds in children with congenital hypothyroidism: a premature conclusion? by Nebesio, Todd D., MD, Eugster, Erica A., MD

Get full text

Acute Peroneal Neuropathy and Foot Drop in Two Adolescent Female Athletes with New-Onset Diabetes by Jaeger, Joel A., Gohil, Anisha, Nebesio, Todd D.

Get full text

Adrenal Insufficiency in Children With Eosinophilic Esophagitis Treated With Topical Corticosteroids by Bose, Paroma, Kumar, Sanjay, Nebesio, Todd D., Li, Chuwen, Hon, Emily C., Atkins, Dan, Furuta, Glenn T., Gupta, Sandeep K.

“…ABSTRACT Objectives: The aim of the study was to identify practices of gastroenterologists screening for adrenal insufficiency (AI) and report prevalence of AI…”
Get full text

Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary? by Hansen, David W., Nebesio, Todd D., DiMeglio, Linda A., Eugster, Erica A., Imel, Erik A.

“…The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal…”
Get full text

Current Concepts in Normal and Abnormal Puberty by Nebesio, Todd D., MD, Eugster, Erica A., MD

Get full text

Adrenal Insufficiency in Children with Eosinophilic Esophagitis Treated with Topical Steroids by Bose, Paroma, Nebesio, Todd D, Hon, Emily C, Gupta, Sandeep K

Get full text

Time course to hypothyroidism after fixed-dose radioablation therapy of Graves' disease in children by Nebesio, Todd D., Siddiqui, Aslam R., Pescovitz, Ora H., Eugster, Erica A.

“…Objective: To characterize the development of hypothyroidism in pediatric patients who receive a fixed dose of radioactive iodine (RAI). Study design: Medical…”
Get full text

Pediatric toxic polycystic thyroid by Belle, Janeil M, Vasilottos, Nektarios, Nebesio, Todd D, James, Benjamin C

“…Polycystic thyroid disease (PCTD) is a rare condition and has been described in adults in the setting of subclinical and clinical hypothyroidism. We present…”
Get more information

Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions by Yang, Feng-Chun, Chen, Shi, Robling, Alexander G, Yu, Xijie, Nebesio, Todd D, Yan, Jincheng, Morgan, Trent, Li, Xiaohong, Yuan, Jin, Hock, Janet, Ingram, David A, Clapp, D Wade

“…Individuals with neurofibromatosis type 1 (NF1) have a high incidence of osteoporosis and osteopenia. However, understanding of the cellular and molecular…”
Get full text

Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/progenitor cells by Wu, Xiaohua, Estwick, Selina A., Chen, Shi, Yu, Menggang, Ming, Wenyu, Nebesio, Todd D., Li, Yan, Yuan, Jin, Kapur, Reuben, Ingram, David, Yoder, Mervin C., Yang, Feng-Chun

“…Mutations in the NF1 tumor suppressor gene cause neurofibromatosis type 1, a pandemic autosomal dominant genetic disorder with an incidence of 1:3000…”
Get full text

Delayed Graves' Ophthalmopathy by Nebesio, Todd D., Eugster, Erica A.

“…Findings on physical examination revealed exotropia of the right eye, bilateral proptosis, periorbital edema, and conjunctival irritation (Panel A)…”
Get full text

Images in clinical medicine. Delayed Graves' ophthalmopathy by Nebesio, Todd D, Eugster, Erica A

Get full text

Does clinical management impact height potential in children with severe acquired hypothyroidism? by Nebesio, Todd D, Wise, Matthew D, Perkins, Susan M, Eugster, Erica A

“…Severe acquired hypothyroidism often results in significant height deficit due to rapid bone age advancement following treatment. Whether gradual correction of…”
Get more information