Results 11 to 20 of about 146,538 (175)

Paediatric cranial ultrasound: abnormalities of the brain in term neonates and young infants. [PDF]

Insights Imaging
Cranial ultrasound is a critical screening tool in the detection of cerebral abnormalities in term neonates and infants, and is complementary to other imaging modalities.
Ní Leidhin C, Paddock M, Parizel PM, Warne RR, Shipman P, Lakshmanan R.   +5 more
europepmc   +3 more sources

Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome. [PDF]

Cells, 2023
Phelan-McDermid syndrome is an inherited global developmental disorder commonly associated with autism spectrum disorder. Due to a significantly increased radiosensitivity, measured before the start of radiotherapy of a rhabdoid tumor in a child with ...
Jesse S, Kuhlmann L, Hildebrand LS, Magelssen H, Schmaus M, Timmermann B, Andres S, Fietkau R, Distel LV.   +8 more
europepmc   +3 more sources

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study. [PDF]

Prenat Diagn
ABSTRACT Objective To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comprising 229 cases with VM.
Moens A, Albersnagel Z, Veenhof MB, Adama van Scheltema PN, Sikkel E, Hoffer MJV, Faas BHW, Westra D, Feenstra I, Bijlsma EK, Santen GWE, Erasmus CE, Peeters-Scholte CMPCD.   +12 more
europepmc   +2 more sources

Pathology reporting of hepatoblastoma resections: recommendations from the international collaboration on cancer reporting. [PDF]

Histopathology
This is the first international dataset for the reporting of hepatoblastoma resection specimens produced by the International Collaboration on Cancer Reporting (ICCR). The aim is to standardize pathology reports, facilitating international data comparisons and improving management of hepatoblastoma on a global level.
López-Terrada DH, Webster F, Alaggio R, Bush JW, Cho SJ, de Krijger RR, Inoue T, O'Neill AF, Perez-Atayde AR, Ranganathan S, Stahlschmidt J, Tanaka Y, Cohen M, Reyes-Múgica M.   +13 more
europepmc   +2 more sources

DICER1 tumor predisposition syndrome: An evolving story initiated with the pleuropulmonary blastoma [PDF]

, 2021
DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early ...
Dehner, Louis P, Field, Amanda P, González, Iván A, Hill, D Ashley, Schultz, Kris Ann P, Stewart, Douglas R   +5 more
core   +2 more sources

Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study. [PDF]

Intern Med J
Abstract Background Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, typically presenting in neonates with congenital cardiac anomalies, hypocalcaemia and thymic hypoplasia. Some patients are diagnosed later in adolescence and adulthood, with less known about the clinical phenotype of these patients.
Loh M, Schildkraut T, Byrnes A, Gelfand N, Gugasyan L, Horton AE, Hunter MF, Ojaimi S.   +7 more
europepmc   +2 more sources

Updated consensus guidelines on the management of Phelan–McDermid syndrome [PDF]

, 2023
Phelan–McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring in individuals with
Asante-Otoo A., Bennett W. E., Bernstein J. A., Berry-Kravis E., Betancur C., Brickhouse T. H., Buxbaum J. D., Chopra M., Christensen C. K., Cully J. L., Dies K., Eva L., Friedman K., Gummere B., Holder J. L., Jimenez-Gomez A., Kerins C. A., Khan O., Kohlenberg T., Kolevzon A., Lacro R. V., Levi L. A., Levy T., Linnehan D., Moshiree B., Neumeyer A., Passos Bueno M. R., Paul S. M., Persico A., Phelan K., Rapaport R., Rogers C., Sahin M., Saland J., Sethuram S., Shapiro J., Soorya L. V., Srivastava S., Tarr P. I., Thurm A., White K. M., Wickstrom J., Williams K. M., Winrow D., Wishart B.   +44 more
core   +1 more source

Novel interpretation of sperm stress test and morphology for maturity assessment of young Norwegian Red bulls [PDF]

, 2023
The use of genomic selection significantly reduces the age of dairy bulls entering semen pro-duction compared to progeny testing. The study aimed to identify early indicators that could be used for screening bulls during their performance testing period ...
Bremer, Joanna, Heringstad, Bjorg, Kommisrud, Elisabeth, Morrell, Jane   +3 more
core   +6 more sources

DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review [PDF]

, 2023
DICER1 syndrome is a rare genetic disorder that predisposes patients to the development of malignant and non-malignant diseases. Presently, DICER1 syndrome diagnosis still occurs late, usually following surgical operations, affecting patients' outcomes ...
Antonelli, Alessandro, Conzo, Giovanni, De Martino, Lucia, De Napoli, Luigi, Fallahi, Poupak, Ferrari, Carlo, Ferrari, Silvia Martina, Frascella, Silvia, Gambale, Antonella, Gennari, Fabrizio, Ghionzoli, Marco, Grandone, Anna, Guglielmo, Carla, Luongo, Caterina, Morganti, Riccardo, Patrizio, Armando, Picariello, Stefania, Quaglietta, Lucia, Romano, Silvia, Sahli, Linda Idrissi, Spinelli, Claudio   +20 more
core   +1 more source

Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature [PDF]

, 2015
Introduction: Klippel-Feil syndrome is characterized by a congenital fusion of cervical vertebrae. Intracranial teratomas are nongerminomatous germ cell tumors and they account for 0.3 to 0.9% of all intracranial tumors.
Adorno, A., Alafaci, C., Cafarella, D., Granata, F., Grasso, G., Salpietro, F., Sanfilippo, F., Scordino, M.   +7 more
core   +1 more source