Results 201 to 210 of about 2,498,926 (399)

Lone Pulmonary Hypertension [PDF]

, 1956
D Short
openalex   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

The Pulmonary Capillary Bed in Various Forms of Pulmonary Hypertension [PDF]

, 1966
R. M. McCredie
openalex   +1 more source

2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension

European Respiratory Journal, 2015
N. Galiè, M. Humbert, J. Vachiéry, S. Gibbs, I. Lang, A. Torbicki, G. Simonneau, A. Peacock, A. Vonk Noordegraaf, M. Beghetti, A. Ghofrani, M. G. Gómez Sánchez, G. Hansmann, W. Klepetko, P. Lancellotti, M. Matucci, T. McDonagh, L. Pierard, P. Trindade, M. Zompatori, M. Hoeper   +20 more
semanticscholar   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Annalisa Turco, Antonella Casella, Marta Carboni, Gaia Visani, Mauro Acquaro, Stefano Ghio, Silvia Kalantari, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

"Primary" Pulmonary Hypertension with Coexisting Portal Hypertension [PDF]

, 1960
Richard L. Naeye
openalex   +1 more source

Updated clinical classification of pulmonary hypertension.

Journal of the American College of Cardiology, 2009
G. Simonneau, M. Gatzoulis, M. Gatzoulis, I. Adatia, I. Adatia, D. Celermajer, D. Celermajer, C. Denton, A. Ghofrani, M. Sánchez, R. Kumar, M. Landzberg, R. Machado, H. Olschewski, I. Robbins, Rogiero Souza   +15 more
semanticscholar   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Primary Pulmonary Hypertension [PDF]

, 1962
Julian C. Sleeper, Edward S. Orgain, Henry D. McIntosh   +2 more
openalex   +1 more source