Results 171 to 180 of about 409,247 (302)

DeepKaryo-Check: a two-stage automated screening framework for chromosomal numerical and structural abnormalities in clinical karyotype analysis. [PDF]

Front Cell Dev Biol
Li W, Liang X, Yu H, Sun L.
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

A non-random chromosome abnormality found in precursor-B lineage acute lymphoblastic leukaemia: dic(9;20)(p1?3;q11).

, 1995
A comparison of cytogenetical data on acute lymphoblastic leukaemia studied at four large European centres has revealed a non-random dicentric chromosome abnormality: dic(9;20) (p1?3;q11) in 10 patients, nine of whom were children.
Harbott, J., Hählen, K., Veerman, A.J., Behrendt, H., Bellomo, M.J., Kroes, W., Mühlematter, D., Hagemeijer, A., Slater, R., Smit, E.   +9 more
core  

Genome-Wide Prenatal cfDNA Screening and the Obstetric Incidentalome: Maternal Cancer, Placental Mosaicism, and Pregnancy Risk. [PDF]

Int J Womens Health
Xu M, Liu Y, Gao M, Zhu Y.
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

A rare <i>de novo</i> prenatal case of Down syndrome due to der(21;21)(q10;q10). [PDF]

Arch Clin Cases
Manea-Sabau ID, Curici A, Lucuta L, Ciurea T, Riza M, Suciu-Lazar V, Anton R, Ceausu I.   +7 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

The minimum requirements for prenatal "confirmatory" diagnosis of fetal aneuploidy. [PDF]

Pregnancy (Hoboken)
Ferreira JC, Levy B, Benn P.
europepmc   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Chromosome 1q alterations in transplant-eligible multiple myeloma: clinical impact of copy number and co-occurring high-risk cytogenetic features. [PDF]

Front Oncol
Strassl I, Bindeus D, Burghofer J, Erdel M, Buxhofer-Ausch V, Machherndl-Spandl S, Saini O, Wipplinger D, Kaynak E, Milanov R, Rotter N, Hasengruber P, Mair L, Nikoloudis A, Weltermann A, Rumpold H, Clausen J.   +16 more
europepmc   +1 more source