Results 241 to 250 of about 230,451 (347)

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics, EarlyView.
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I. Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho‐Pessach, Hagit Daum, Tamar Harel   +10 more
wiley   +1 more source

Early diagnosis and neonatal management of Turner syndrome with disproportionate short stature and coarctation of the aorta. [PDF]

BMJ Case Rep
Alhasni F, Rahmath MR, Bayoumi MAA, Elmalik EE.   +3 more
europepmc   +1 more source

Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

Clinical Genetics, EarlyView.
We present a clinical and molecular characterization of 16 Brazilian individuals with Xia–Gibbs syndrome, identifying 12 novel AHDC1 variants and four phenotypes not previously associated. Our findings support existing genotype–phenotype associations and suggest a new relation, expanding the known phenotypic and genetic spectrum of the syndrome ...
Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, Giovana Manilli Toccoli, Sofia de Oliveira Farias, Davi Mendes Campo Fialho, Eny Maria Goloni Bertollo, Erika Cristina Pavarino, Larissa Sampaio de Athayde, Cecilia Barbosa Buck, Maria Betânia Pereira Toralles, Maria Isabel Melaragno, Mariluce Riegel‐Giugliani, Gustavo Marquezani Spolador, Paulo Alberto Otto, Caroline Brandão Piai, Fernando Kok, Ceres Schmitz Cechella, Carla Rosenberg, Juan Clinton Llerena, Débora Romeo Bertola, Salmo Raskin, Chong Ae Kim, Ana Cristina Victorino Krepischi   +23 more
wiley   +1 more source

A long way to syndromic short stature. [PDF]

Ital J Pediatr
Gaudioso F, Meossi C, Pezzani L, Grilli F, Silipigni R, Russo S, Masciadri M, Vimercati A, Marchisio PG, Bedeschi MF, Milani D.   +10 more
europepmc   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Predictors of short stature in Israeli children aged 6-7 years: a retrospective cohort study. [PDF]

Isr J Health Policy Res
Fisch-Shvalb N, Yackobovitch-Gavan M, Fliss-Isakov N, Morali Y, Brooks N, Blaychfeld-Magnazi M, Zimmerman DR, Lazar L, Phillip M, Endevelt R.   +9 more
europepmc   +1 more source

Anthropometric variables and their relationship to performance and ability in male surfers. [PDF]

, 2012
Bale P., Bangsbo J., Carlton Cooke, Felder J. M., Hutt J. A., Karen Gresty, Lowdon B. J., Lowdon B. J., Lowdon B. J., Lowdon B. J., Malcolm Findlay, Matthew John Barlow, Meir R. A. L., Mendez-Villanueva A., Norton K., Yuhasz M. S.   +15 more
core   +1 more source

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

Clinical Genetics, EarlyView.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert McFarland, Robert W. Taylor   +20 more
wiley   +1 more source

Explainable predictive models of short stature and exploration of related environmental growth factors: a case-control study. [PDF]

BMC Endocr Disord
Liu J, Zhang X, Li W, Bigambo FM, Wang D, Wang X, Teng B.   +6 more
europepmc   +1 more source

GH and Zinc Treatments for Short Stature Caused by Steroid Treatments in a Young Patient with Autoimmune Hepatitis (Type 1)

, 1998
Yosuke Mori, Hiroko Kodama, Taketoshi Iitsuka, Yutaka Nakazato, Toshiaki Abe, Mamoru Hata   +5 more
openalex   +2 more sources