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Showing 1 to 9 of 9 entries
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Evaluation of an insulin-like growth factor I-based growth hormone dosing regimen for children with short stature.

Nature clinical practice. Endocrinology & metabolism

Chernausek S.
PMID: 17667897
Nat Clin Pract Endocrinol Metab. 2007 Oct;3(10):682-3. doi: 10.1038/ncpendmet0591. Epub 2007 Jul 31.

No abstract available.

An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

International journal of pediatric endocrinology

Schaeffer TL, Tryggestad JB, Mallappa A, Hanna AE, Krishnan S, Chernausek SD, Chalmers LJ, Reiner WG, Kropp BP, Wisniewski AB.
PMID: 20339513
Int J Pediatr Endocrinol. 2010;2010:692439. doi: 10.1155/2010/692439. Epub 2010 Mar 18.

In 2002 a consensus statement pertaining to the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency was jointly produced by the Lawson Wilkins Pediatric Endocrine Society and the European Society of Pediatric Endocrinology. One of the recommendations...

Medullary thyroid cancer in a 9-week-old infant with familial MEN 2B: Implications for timing of prophylactic thyroidectomy.

International journal of pediatric endocrinology

Shankar RK, Rutter MJ, Chernausek SD, Samuels PJ, Mo JQ, Rutter MM.
PMID: 22992277
Int J Pediatr Endocrinol. 2012 Sep 19;2012(1):25. doi: 10.1186/1687-9856-2012-25.

BACKGROUND: Patients with Multiple Endocrine Neoplasia type 2 (MEN 2) are at high risk of developing aggressive medullary thyroid carcinoma (MTC) in childhood, with the highest risk in those with MEN type 2B (of whom >95% have an M918T...

Maternal diabetes alters microRNA expression in fetal exosomes, human umbilical vein endothelial cells and placenta.

Pediatric research

Shah KB, Chernausek SD, Teague AM, Bard DE, Tryggestad JB.
PMID: 32663836
Pediatr Res. 2021 Apr;89(5):1157-1163. doi: 10.1038/s41390-020-1060-x. Epub 2020 Jul 14.

BACKGROUND: Exposure to diabetes in utero influences future metabolic health of the offspring. MicroRNAs (miRNA) are small noncoding RNAs that may contribute mechanistically to the effects on offspring imparted by diabetes mellitus (DM) during pregnancy. We hypothesized that exposure...

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nature genetics

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME.
PMID: 28546579
Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c.

No abstract available.

Hypogonadotropic hypogonadism presenting with arhinia: a case report.

Journal of medical case reports

Tryggestad JB, Li S, Chernausek SD.
PMID: 23432817
J Med Case Rep. 2013 Feb 22;7:52. doi: 10.1186/1752-1947-7-52.

INTRODUCTION: Arhinia, congenital absence of the nose, is a rare malformation. We present the third reported case of arhinia accompanied by hypogonadism and demonstrate that this is due to gonadotropin deficiency.CASE PRESENTATION: A 13-year-old Caucasian boy with congenital arhinia...

Primary caregivers of children affected by disorders of sex development: mental health and caregiver characteristics in the context of genital ambiguity and genitoplasty.

International journal of pediatric endocrinology

Fedele DA, Kirk K, Wolfe-Christensen C, Phillips TM, Mazur T, Mullins LL, Chernausek SD, Wisniewski AB.
PMID: 20628508
Int J Pediatr Endocrinol. 2010;2010:690674. doi: 10.1155/2010/690674. Epub 2010 Jun 13.

Purpose. To determine the relationship between having a child with a DSD including ambiguous external genitalia, as well as the decision of whether or not to have early genitoplasty for that child, on the mental health and parenting characteristics...

Erratum. The First Genome-Wide Association Study for Type 2 Diabetes in Youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium. Diabetes 2021;70:996-1005.

Diabetes

Srinivasan S, Chen L, Todd J, Divers J, Gidding S, Chernausek S, Gubitosi-Klug RA, Kelsey MM, Shah R, Black MH, Wagenknecht LE, Manning A, Flannick J, Imperatore G, Mercader JM, Dabelea D, Florez JC.
PMID: 34957479
Diabetes. 2022 Oct 29; doi: 10.2337/db22-er01a. Epub 2022 Oct 29.

No abstract available.

Erratum. The First Genome-Wide Association Study for Type 2 Diabetes in Youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium. Diabetes 2021;70:996-1005.

Diabetes

Srinivasan S, Chen L, Todd J, Divers J, Gidding S, Chernausek S, Gubitosi-Klug RA, Kelsey MM, Shah R, Black MH, Wagenknecht LE, Manning A, Flannick J, Imperatore G, Mercader JM, Dabelea D, Florez JC.
PMID: 34716200
Diabetes. 2021 Oct 29; doi: 10.2337/db22-er01a. Epub 2021 Oct 29.

No abstract available.

Showing 1 to 9 of 9 entries