Results 201 to 210 of about 7,665 (266)

Nutritional information needs and search behaviors in argentine oncology patients [PDF]

Rev Fac Cien Med Univ Nac Cordoba
Manzur KM, Kohan Cortada A.
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Autophagy-NAD⁺ axis: emerging insights into neuronal homeostasis and neurodegenerative diseases. [PDF]

Front Mol Biosci
Kocak G, Dimas MM, Silva LFSE, Silva-Amaral D, Sun C, Cruddas S, Barrett T, Martins-de-Souza D, Cunha-Neto E, Brocardo PS, Kataura T, Korolchuk VI, Sarkar S.   +12 more
europepmc   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Mejorar la comunicación sobre la equidad en la salud en la investigación observacional (STROBE Equidad): la lista de verificación ampliada y su elaboración. [PDF]

Rev Panam Salud Publica
Dewidar O, Shamseer L, Melendez-Torres GJ, Akl EA, Ramke J, Wang X, Oloyede O, Young T, Nicholls SG, Marshall Z, Kennedy M, Hardy BJ, Rizvi A, Ghogomu E, Rader T, Waddington HS, Shea B, Nguilefem MN, Ellingwood H, Wolfenden L, Tufte J, Horsley T, Pottie K, Cuervo LG, Juando-Prats C, Feng C, Sharp MK, Little J, Owusu-Addo E, Francis D, Kredo T, Mahande MJ, Chamberlain C, Pantoja T, von Elm E, Bhutta ZA, Tugwell P, Wiysonge CS, Funnell S, Jull J, Mbuagbaw L, Welch V.   +41 more
europepmc   +1 more source

Catálogo de pesquisas PUCRS : 2008 [PDF]

, 2008
Pontifícia Universidade Católica do Rio Grande do Sul, Pró-Reitoria de Pesquisa e Pós-Graduação   +1 more
core  

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

TREATMENT OF GASTRIC CANCER ACCORDING TO THE COMPLEXITY OF THE HOSPITAL ONCOLOGY UNIT: ANALYSIS OF 33,774 PATIENTS OVER TWO DECADES. [PDF]

Arq Bras Cir Dig
Ramos MFKP, Pereira MA, Luizaga CTM, Lombardo V, Leite VB, Peres SV, Pinheiro RN, Ribeiro Junior U.   +7 more
europepmc   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Microbiota-immune dysregulation in cervical cancer patients from Western Mexico: linking gut dysbiosis and NK cell exhaustion as promising biomarkers. [PDF]

Front Immunol
Klimov-Kravtchenko K, Baltazar-Díaz TA, Haramati J, Castaño-Jiménez PA, Solorzano-Ibarra F, Rojas-Diaz JM, Garcia-Barrientos NT, Cruz-Ramos JA, Facundo-Medina CG, Del Toro-Arreola S, Bueno-Topete MR.   +10 more
europepmc   +1 more source