Results 281 to 290 of about 3,806,232 (342)

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

Micróbios no convés: a peste bubônica e o fim das quarentenas no Brasil (1899-1904)

, 2015
Matheus Alves Duarte da Silva
openalex   +2 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Efficacy of using the mechanochemical endovenous ablation to treat chronic venous ulcers: case report and literature review. [PDF]

J Vasc Bras
Magnani AS, Villari TFN, Melo AA, da Silva MJ, Leiderman DBD.   +4 more
europepmc   +1 more source

CUSTO DO BOMBEAMENTO DE ÁGUA PARA IRRIGAÇÃO NO BRASIL

, 2001
Pauletti Karlien Rocha, Edilaine Regina Pereira, Rubens Duarte Coelho   +2 more
openalex   +2 more sources

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

Optimal timing for diagnosis of gestational diabetes as a determinant of pregnancy outcomes: exploring the particularities in a low-income population. [PDF]

Arch Endocrinol Metab
Chichelero GM, Hoss GJ, Auler A, Oppermann MLR, Reichelt AJ, Schaan BD, Alessi J.   +6 more
europepmc   +1 more source

Applications of N─F─Based Reagents in the Synthesis of Organochalcogen Compounds

Asian Journal of Organic Chemistry, EarlyView.
Herein, we provide a comprehensive review of recent advances in synthetic strategies to access organochalcogen‐decorated compounds using N─F reagents as efficient oxidants for converting chalcogen–chalcogen bonds into electrophilic chalcogen‐based species.
Thiago Anjos, Mateus W. Rambo, Damiano Tanini, Alan Diego C. Santos, Ricardo F. Schumacher, Filipe Penteado   +5 more
wiley   +1 more source

Molecular and serological diagnosis of Toxoplasma gondii infection in wild animals in the Pantanal in Brazil. [PDF]

Rev Bras Parasitol Vet
Dahroug MAA, Juliano RS, Chioccola VLP, Nicolau JL, Neves LBD, Arruda IF, Barbosa ADS, Antunes PC, Mourão GM, Dib LV, Amendoeira MRR.   +10 more
europepmc   +1 more source