Results 161 to 170 of about 58,343 (309)

Distinct chromosome abnormality patterns for differential diagnosis of hepatocellular carcinoma and cholangiocarcinoma. [PDF]

PLoS One
Ngamsangiam W, Techa-Ay S, Sa-Ngiamwibool P, Watcharadetwittaya S, Deenonpoe R, Techasen A, Sridakhun N, Padthaisong S, Thanee M.   +8 more
europepmc   +1 more source

A meiotic study of two translocations and a tertiary trisomic in the mouse (Mus musculus)

, 1975
In this section, the order of the articles has not been closely followed. Each point ends with the number(s) of the article(s) (as given in the contents), where the conclusion is based on.1) Cytological meiotic studies of T(2;8)26H and T(1;13)70H ...
Boer, P., de, de Boer, P.
core  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Chromosome Abnormality Detection Rates of QF-PCR in Early Pregnancy Loss. [PDF]

Curr Health Sci J
Popescu-Hobeanu G, Cucu MG, Riza AL, Streata I, Plesea RM, Dorobantu S, Barbu A, Zorila LG, Dinu M, Dijmarescu AL, Tudorache S, Iliescu D, Burada F.   +12 more
europepmc   +1 more source

Women's experience of coping with termination of pregnancy for fetal abnormality: coping strategies, perinatal grief and posttraumatic growth

Pregnancy termination for fetal abnormality (TFA) represents 2% of all terminations in England and Wales. In recent years, the number of TFAs has risen (3,099 in 2014 compared to 2,085 in 2009) due to technological developments in prenatal diagnosis and ...
Lafarge, Caroline
core  

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

Correction: A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report

Frontiers in Medicine
Guosheng Deng, Weiwu Liu, Yuqing Lai, Jinjie Pan, Yanyan Chen, Jujie Song, Donghua Zhang, Xiafei Liang, Sisi Ning, Yinghong Lu, Yunning Liang, Derong Li   +11 more
doaj   +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

Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion.

, 2002
Two patients with Ph-positive chronic myelocytic leukemia in erythroblastic transformation and rearrangement of the short arm of chromosome 18 are reported.
Waill, Marie Christine, Arock, Michel, Davi, Frédéric, Ribadeau-Dumas, Antoine, Berger, Roland, Merle-Béral, Hélène, Busson, Maryvonne, Piffaut, Marie-Claude, Romana, Serge P, Daniel, Marie-Thérèse, Collonge-Rame, Marie Agnès, Nguyen Khac, Florence, Radford-Weiss, Isabelle   +12 more
core  

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