Results 151 to 160 of about 2,006,401 (349)

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

Case Report of Cutaneous Squamous Cell Carcinoma at the Wrist Joint and the Public Health Crisis of Arsenicosis. [PDF]

J Health Pollut, 2021
Sachan S, Pathania S, Mahdi AA, Suvirya S, Singhai A.   +4 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Functional Relationships Between Wrist Joint Morphology and Ulnar Deviation in Strepsirrhine Primates. [PDF]

Am J Biol Anthropol
Lemelin P.
europepmc   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Mechanical Effects of Wrist Position at the Wrist Joint: A Finite Element Analysis. [PDF]

J Hand Surg Glob Online
Nomoto T, Matsuura Y, Yamazaki T, Suzuki T, Ohtori S.   +4 more
europepmc   +1 more source

Development of the human wrist joint ligaments [PDF]

, 1996
Juan A. Mérida‐Velasco, J.D. García-García, Joaquín Espín‐Ferra, Indalecio Sánchez‐Montesinos   +3 more
openalex   +1 more source

Cuneiform Nucleus Stimulation Can Assist Gait Training to Promote Locomotor Recovery in Individuals With Incomplete Tetraplegia

Annals of Neurology, EarlyView.
Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer, Lennart H. Stieglitz, Marc Bolliger, Linard Filli, Adrian Cathomen, Romina Willi, Irina Lerch, Iris Krüsi, Melina Giagiozis, Christian Meyer, Martin Schubert, Michèle Hubli, Thomas M. Kessler, László Demkó, Christian R. Baumann, Lukas Imbach, Markus F. Oertel, Andrea Prusse, Alina Kiseleva, Luca Regli, Martin E. Schwab, Armin Curt   +21 more
wiley   +1 more source

Measurement of compensatory wrist joint rotation using three-dimensional motion analysis in patients with unilateral proximal congenital radioulnar synostosis. [PDF]

Acta Orthop Traumatol Turc, 2021
Li Q, Park JH, Lee Y, Kim J, Bae KJ, Baek GH.   +5 more
europepmc   +1 more source

Ultrasound and Joint Mobilizations for Achieving Normal Wrist Range of Motion After Injury or Surgery: A Case Series [PDF]

, 2010
David O. Draper
openalex   +1 more source