Results 221 to 230 of about 471,049 (371)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Arhgef7 is essential for granule cell precursor proliferation and migration during cerebellum development. [PDF]

iScience
Jiménez-Amilburu V, Ducuing H, Balekoglu N, Sukumaran S, Yam PT, Charron F.   +5 more
europepmc   +1 more source

P01.01: The study of normal fetal cerebellum volume measured by using Virtual Organ Computer aided AnaLysis of three‐dimensional ultrasound [PDF]

, 2011
Xiao Zuo-ping
openalex   +1 more source

Cerebral hemispheres – cerebellum – kidney interaction in patients with acute cerebral ischemia

, 2021
O.M. Kononets, Tkachenko Ev, O.O. Kamenetska   +2 more
openalex   +2 more sources

Regional cerebellum volume anomalies and associated cognitive function in children with fetal alcohol spectrum disorders. [PDF]

Alcohol Clin Exp Res (Hoboken)
Gimbel BA, Roediger DJ, Tuominen KA, Anthony ME, Doughty AL, Ernst AM, Mueller BA, de Water E, CIFASD, Wozniak JR.   +9 more
europepmc   +1 more source

MORPHOMETRY AND HISTOLOGY STRUCTURE OF CEREBELLUM OF BALI DUCKS

Sekar Aurellya Savira, Ni Luh Eka Setiasih, Luh Gde Sri Surya Heryani   +2 more
openalex   +2 more sources

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

The Cerebellar Connectome Disruptions in Ischemic Stroke. [PDF]

CNS Neurosci Ther
Wang X, Li T, Wang J, Fu Y, Ma Z, Wu X, Wang Y, Zang Y, Song Y, Lv Y.   +9 more
europepmc   +1 more source

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

SS_CASE_UNet: an attention-enhanced semi-supervised framework for fetal cerebellum segmentation in ultrasound images. [PDF]

Sci Rep
Vatanparast A, Fateh M, Mashayekhi H, Ferdowsi S.   +3 more
europepmc   +1 more source