Results 281 to 290 of about 1,296,099 (381)

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen, Roope A. Kallionpää   +6 more
wiley   +1 more source

Posterior Reversible Encephalopathy Syndrome Leading to Diagnosis of Acute Postinfectious Glomerulonephritis in a Pediatric Patient: A Case Report. [PDF]

Case Rep Pediatr
Hayworth SB, Johnson DL, Schmit EO.
europepmc   +1 more source

Luspatercept in Transfusion‐Dependent β‐Thalassemia: The Benefit Is Real, and So Are the Risks

American Journal of Hematology, EarlyView.
Khaled M. Musallam
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey. [PDF]

Front Immunol
Shiraki M, Kadowaki S, Miwa Y, Nishimura K, Maruyama Y, Kishida D, Imagawa K, Kobayashi C, Takada H, Mitsunaga K, Inoue Y, Ebato T, Miyamoto T, Hiejima E, Sato S, Migita K, Matsubayashi T, Kobayashi D, Hasegawa E, Kaneko U, Ishikawa T, Onodera M, Matsushita K, Koike Y, Umebayashi H, Kakuta F, Abukawa D, Funakoshi Y, Ishimura M, Otani Y, Nishizawa T, Ishige T, Hatori R, Tanaka S, Kusunoki S, Nakamura K, Shirai H, Hatai Y, Miyaoka F, Kaneko S, Shimbo A, Shimizu M, Kanegane H, Hashimoto M, Negoro N, Yoshida T, Wada Y, Usami M, Wada T, Izawa K, Yasumi T, Nishikomori R, Ohnishi H.   +52 more
europepmc   +1 more source

Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cascade genetic testing for cancer risk can influence relatives' health outcomes, as they may benefit from risk reduction and screening. However, clinical guidelines discourage predictive genetic testing in childhood—including direct‐to‐consumer (DTC) testing.
Marcelo M. Sleiman Jr., Talia Zamir, Beth N. Peshkin, Jada G. Hamilton, Mingqian Liu, Mary Rose Yockel, Benjamin Wilfond, Lainie Friedman Ross, Jamie Brower, Hannah Ovadia, Rosalba Sacca, Beth Tarini, Susan M. Domchek, Claudine Isaacs, Kenneth P. Tercyak   +14 more
wiley   +1 more source

Evaluation of a modularized system of instruction in pediatrics

, 1977
H G Levine, C. W. Daeschner, J. L. Emery
openalex   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Let's be pediatricians: What influences Saudi medical students' interest in pursuing a career in pediatrics. [PDF]

J Family Med Prim Care
Alnasser Y, Alharthi AI, AlJohani RM, Alsaedi AS, Alajlani SI, Shalhoub FHB, Omar JAS.   +6 more
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source