Results 321 to 330 of about 1,639,589 (408)

Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15. [PDF]

Sci Rep
Pan J, Teng H, Liu F, Chen S, Liu Y, Teng Y, Liang D, Li Z, Wu L.   +8 more
europepmc   +1 more source

Analysis of Late Complications Associated With Hematopoietic Stem Cell Transplantation in Patients With Dyskeratosis Congenita

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Dyskeratosis congenita (DKC) is a genetic disorder frequently complicated by bone marrow failure (BMF). Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment option for BMF in DKC. However, late complications of DKC, especially pulmonary fibrosis (PF), pose significant challenges.
Takashi Koike, Shohei Yamamoto, Mayuko Shibata, Kohei Otsuka, Yumiko Sugishita, Ryota Kaneko, Naoko Kawabata, Sachio Fujita, Kosuke Akiyama, Daisuke Toyama, Miharu Yabe, Atsushi Uchiyama, Hiromasa Yabe   +12 more
wiley   +1 more source

Malignant Peripheral Nerve Sheath Tumor in Children and Adolescents: Local Treatment in a Retrospective Single‐Center Experience

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Malignant peripheral nerve sheath tumor (MPNST) is a rare and aggressive sarcoma often associated with neurofibromatosis type 1, whose clinical management remains complex and challenging. Few publications exist on pediatric MPNST, and limited data are available on the best treatment approach, in particular regarding local therapy ...
Andrea Ferrari, Luca Bergamaschi, Stefano Chiaravalli, Marco Fiore, Chiara Colombo, Emilia Pecori, Arianna Trovò, Carlo Morosi, Roberto Luksch, Monica Terenziani, Filippo Spreafico, Cristina Meazza, Marta Podda, Veronica Biassoni, Elisabetta Schiavello, Nadia Puma, Giovanna Gattuso, Giovanna Sironi, Olga Nigro, Valeria Colombo, Patrizia Gasparini, Sandro Pasquali, Maura Massimino, Michela Casanova, Sabina Vennarini   +24 more
wiley   +1 more source

Hypertension in Autosomal Dominant Polycystic Kidney Disease

Saudi Journal of Kidney Diseases and Transplantation, 1999
Al-Khader Abdullah
doaj  

Clinical Validity of Autosomal DominantALPK3Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy

Hespe S, Singer ES, Reuter C, Murray B, Jordan E, Chowns J, Peters S, Mayers M, Gray B, Hershberger RE, Owens A, Semsarian C, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru M, Anderson K, Brown EE, Hoffman-Andrews L, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Muiño-Mosquera L, Parikh V, Walsh R, Wayburn B, Ware JS, Parker BL, Porrello ER, Elliott DA, McNamara JW, Ingles J.   +38 more
europepmc   +1 more source

A missense mutation in the γD crystallin gene (CRYGD) associated with autosomal dominant coral-like cataract linked to chromosome 2q [PDF]

, 2004
Andley, Usha P, Mackay, Donna S, Shiels, Alan   +2 more
core   +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

Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort. [PDF]

Genes (Basel)
Berry V, Ponnekanti MB, Aychoua N, Ionides A, Tsika C, Quinlan RA, Michaelides M.   +6 more
europepmc   +1 more source

Left ventricular hypertrophy in autosomal dominant polycystic kidney disease.

, 1997
Arlene B. Chapman, Margaret Johnson, Susan Rainguet, Kenneth F. Hossack, Patricia A. Gabow, Robert W. Schrier   +5 more
openalex   +1 more source