Results 231 to 240 of about 73,154 (293)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Improved outcomes of pediatric patients with vascular malformations treated at a multidisciplinary vascular anomaly clinic. [PDF]

JAAD Int
Valdés-Loperena S, González-Moreno A, Elizalde-Jiménez IG, Durán-McKinster C, García-Romero MT.   +4 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Cerebral vascular malformations: pathogenesis and therapy. [PDF]

MedComm (2020)
He Q, Huo R, Sun Y, Zheng Z, Xu H, Zhao S, Ni Y, Yu Q, Jiao Y, Zhang W, Zhao J, Cao Y.   +11 more
europepmc   +1 more source

Correction: Editorial: Intracranial aneurysms, AVM and other vascular malformations, and connective tissue disorders as potential causes of stroke: advances in diagnosis and therapeutics including novel neurosurgical techniques. [PDF]

Front Neurol
Chavda V, Umana GE, Chaurasia B, Priola SM, Moscote-Salazar LR.   +4 more
europepmc   +1 more source

Efficacy of ultrasound-guided microwave ablation for vascular malformations in children. [PDF]

J Vasc Surg Venous Lymphat Disord
Huang S, Xu F, Li X, Zhang H, Chen J, Zhao Z, Zhang J, Peng L, Kong X.   +8 more
europepmc   +1 more source

Vascular Malformations of the External Ear: A Systematic Review of Clinical Presentation, Diagnosis, and Management. [PDF]

Plast Reconstr Surg Glob Open
Alhusain AM, Alsaif M, Alkhathami AM, Alshaalan S, Alghamdi AM, Alqirnas M, Alkhunein J, Alsalamah S, Alhije F, Alaowid F, Zaki AM.   +10 more
europepmc   +1 more source

Targeted therapies for vascular malformations. [PDF]

Front Med (Lausanne)
Kane G, Fernandez-Pineda I.
europepmc   +1 more source

Genetic Insights Into Hemorrhagic Stroke and Vascular Malformations: Pathogenesis and Emerging Therapeutic Strategies. [PDF]

Stroke
Kalailingam P, Rannikmae K, Hausman-Kedem M, Musolino PL, Ruigrok YM.   +4 more
europepmc   +1 more source