Results 291 to 300 of about 534,196 (400)

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

EVALUATION OF ARTHROSCOPIC TREATMENT OF TRIANGULAR FIBROCARTILAGE. [PDF]

Acta Ortop Bras
Holanda LS, Viana GJF, Queiroz FM, Garcia JVDC, Imoto FS, Dobashi ET.   +5 more
europepmc   +1 more source

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

Trapeziometacarpal Arthrodesis With Tendon Interposition Resection Arthroplasty at the Scaphotrapeziotrapezoid Joint for Eaton Stage IV Trapeziometacarpal Osteoarthritis. [PDF]

J Hand Surg Glob Online
Hayashi M, Kato H, Uchiyama S, Iwakawa H, Kitamura Y, Takahashi J.   +5 more
europepmc   +1 more source

Bone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower‐Dose Estradiol Therapy for Healthy Bone Density and Quality

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The effect of estrogen deficiency on bone health in Turner syndrome (TS) may be a concern even before adulthood. Previous guidelines have discussed hormone replacement therapy (HRT) in children with TS. However, some practical issues related to puberty induction in TS require clarification, such as how to implement HRT to achieve adequate bone
Yukihiro Hasegawa, Kento Ikegawa, Takeshi Munenaga, Tomoyo Itonaga, Marie Mitani‐Konno, Masanobu Kawai, Naoko Amano   +6 more
wiley   +1 more source

The Prevalence of Scapholunate Signal Abnormalities on Magnetic Resonance Imaging. [PDF]

Hand (N Y)
Kooi K, Dankelman LHM, Reikersdorfer K, de Klerk HH, Oflazoglu K, Chen NC.   +5 more
europepmc   +1 more source

Design and Control of Additional Wrist Mechanism for Fine Motion Control of Manipulators

, 1982
Hideo Hanafusa, T. Yoshikawa, Yoshihiko Nakamura   +2 more
openalex   +1 more source

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3

Animal Models and Experimental Medicine, EarlyView.
Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry, Harsimran Sidhu, Maude Lévesque, Dominique Lévesque, Jean‐François Jacques, Otman Sarrhini, Jean‐François Beaudoin, Molly Caron, Brenda Gaudette, Roger Lecomte, Xavier Roucou, François‐Michel Boisvert, Jean‐Philippe Brosseau   +12 more
wiley   +1 more source

Do wrist anatomical differences predispose to scapholunate ligament injury? A case-control radiographic study. [PDF]

J Orthop Surg Res
Eravsar E, Gulec A, Sezer FB, Ozkan I, Özdemir A, Acar MA.   +5 more
europepmc   +1 more source

ROENTGENOLOGIC CONSIDERATION ON THE WRIST INSTABILITY AND A DESIGN OF SUPPORT FOR MOTION STUDY OF THE WRIST

, 1983
TAIKI HORIBE, HIROE HORIBE, Ryogo Nakamura   +2 more
openalex   +2 more sources