Results 81 to 90 of about 495,016 (275)

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Letter to the editor of clinical endocrinology: Assessment of adrenal function in patients who survive COVID-19. [PDF]

Clin Endocrinol (Oxf), 2023
Clarke SA, Phylactou M, Patel B, Mills EG, Muzi B, Izzi-Engbeaya C, Choudhury S, Khoo B, Meeran K, Comninos AN, Abbara A, Tan T, Dhillo WS.   +12 more
europepmc   +1 more source

Diabetes mellitus remission in a cat with pituitary-dependent hyperadrenocorticism after trilostane treatment [PDF]

, 2018
An 8-year-old male neutered Persian cat was presented with polyuria, polydipsia, polyphagia and muscle weakness associated with a 7 month history of diabetes mellitus (DM).
Adriana Cunha Muschner, Fernanda Venzon Varela, Katarina Hazuchova, Stijn JM Niessen, Álan Gomes Pöppl   +4 more
core   +2 more sources

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

American Association of Clinical Endocrinology Clinical Practice Guideline: Developing a Diabetes Mellitus Comprehensive Care Plan-2022 Update. [PDF]

Endocr Pract, 2022
Blonde L, Umpierrez GE, Reddy SS, McGill JB, Berga SL, Bush M, Chandrasekaran S, DeFronzo RA, Einhorn D, Galindo RJ, Gardner TW, Garg R, Garvey WT, Hirsch IB, Hurley DL, Izuora K, Kosiborod M, Olson D, Patel SB, Pop-Busui R, Sadhu AR, Samson SL, Stec C, Tamborlane WV, Tuttle KR, Twining C, Vella A, Vellanki P, Weber SL.   +28 more
europepmc   +1 more source

RET mutation and increased angiogenesis in medullary thyroid carcinomas [PDF]

, 2016
Advanced medullary thyroid cancers (MTCs) are now being treated with drugs that inhibit receptor tyrosine kinases, many of which involved in angiogenesis.
Acquaviva, Giorgia, Boichard, Amélie, Casadei, Gian Piero, Checquolo, Saula, Colato, Chiara, de Biase, Dario, Durante, Cosimo, Ferdeghini, Marco, Filetti, Sebastiano, Pecce, Valeria, Rhoden, Kerry, Rosignolo, Francesca, Russo, Diego, Sponziello, Marialuisa, Tallini, Giovanni, Verrienti, Antonella, Visani, Michela   +16 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Epigenetic regulation of bone mass. [PDF]

Best Pract Res Clin Endocrinol Metab, 2022
Curtis EM, Fuggle NR, Cooper C, Harvey NC.   +3 more
europepmc   +1 more source

Metabolic, inflammatory and haemostatic effects of a low-dose continuous combined HRT in women with type 2 diabetes: potentially safer with respect to vascular risk? [PDF]

, 2003
BACKGROUND Conventional hormone replacement therapy (HRT) containing conjugated equine oestrogen (CEE) and medroxyprogesterone acetate (MPA) increases triglyceride, C- reactive protein (CRP) and coagulation Factor VII concentrations, potentially ...
Alan J. Jaap, Andersen, Anderson, Ann Rumley, Anne Kelly, Brussard, Cushman, Dichtl, Ferrara, Gordon D. Lowe, Gornstein, Herrington, Hokanson, Hulley, Ian A. Greer, John R. Petrie, Joyce McKenzie, Kanaya, Kenneth Paterson, Knopp, Koh, Kroon, Kroon, Lokkegaard, Lowe, Lowe, Lowe, Lynne Crawford, Manning, Meade, Naveed Sattar, Perera, Petitti, Pradhan, Rapp, Ridker, Ridker, Rossouw, Sattar, Sattar, Stephen Gallacher, Stork, Van Baal, Van Baal, Vehkavaara, Woodward, Zanger   +46 more
core   +1 more source

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source