Results 211 to 220 of about 247,558 (284)

Enamel Defects in Carriers of a Novel LAMA3 Mutation Underlying Epidermolysis Bullosa [PDF]

, 2012
Jonkman, MF, Pasmooij, AM, Stellingsma, C, Yuen, WY   +3 more
core   +2 more sources

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, EarlyView.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source

FOXA1 Alterations in Prostate Cancer: Expression, Mutation Classes, and Copy Number Changes. [PDF]

In Vivo
Lehrer S, Rheinstein P.
europepmc   +1 more source

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non‐consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome
Ilia Spivak, Daniella Magen, Karin Weiss, Tamar Paperna, Suhair Hanna, Amos Etzioni, Adi Miller‐Barmak, Yonatan Butbul Aviel   +7 more
wiley   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Missense mutations in intrinsically disordered protein regions link pathogenicity and phase separation. [PDF]

J Biol Chem
Kipp OL, Lewis KA, Hough LE, Whitten ST.
europepmc   +1 more source

Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We describe a series of pregnancies with autosomal dominant lymphedema and generalized lymphatic dysplasia in the fetus diagnosed with prenatal exome or genome sequencing. We focus on specific syndromes, fetal features, and parental symptoms to deepen our understanding of congenital lymphatic anomalies.
Sara G. Vargo, Daniella Rogerson, Patrick Devine, Jessica Van Ziffle, Teresa N. Sparks   +4 more
wiley   +1 more source