Results 131 to 140 of about 1,053 (245)

Pediatric Right Atrial Mass With Pulmonary Embolization. [PDF]

CASE (Phila)
Kandoi K, Ganigara M, Hibino N, Earing MG.   +3 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Characteristics and Survival Outcomes of Hepatocellular Carcinoma After the Fontan Operation. [PDF]

JACC Adv
Rosenthal BE, Hoteit MA, Lluri G, Haeffele C, Daugherty T, Krasuski RA, Serfas JD, de Freitas RA, Porlier A, Lubert AM, Wu FM, Valente AM, Krieger EV, Buber Y, Rodriguez FH, Gaignard S, Saraf A, Hindes M, Earing MG, Lewis MJ, Rosenbaum MS, Zaidi AN, Hopkins K, Bradley EA, Cedars AM, Ko JL, Franklin WJ, Frederickson A, Ginde S, Grewal J, Nyman A, Min J, Schluger C, Rand E, Hilscher M, Rychik J, Kim YY.   +36 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Forest Fine Root Litter Mitigates the NH₃ Volatilization and N₂O Emission from N-Applied Agriculture Soil. [PDF]

Plants (Basel)
Wu S, Chu L, Zhu G, Ning L.
europepmc   +1 more source

Ear infections [PDF]

Paediatrics & Child Health, 2009
openaire   +2 more sources

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Anomalous Right Coronary Artery Arising Off the Pulmonary Artery in an Elderly Woman With Palpitations. [PDF]

JACC Case Rep
Tang B, Ganigara M, Earing M.
europepmc   +1 more source

Genetic and Morpho-Agronomic Characterization of Sicilian Tetraploid Wheat Germplasm. [PDF]

Plants (Basel), 2022
Sicilia A, Anastasi U, Bizzini M, Montemagno S, Nicotra C, Blangiforti S, Spina A, Cosentino SL, Lo Piero AR.   +8 more
europepmc   +1 more source