Results 171 to 180 of about 2,432,280 (329)

A Rare Case of Chromosomal Abnormality: 19q13.11 Deletion in a Patient With Aplasia Cutis Congenita and Ambiguous Genitalia. [PDF]

Cureus
Srivastava A, Sharma R, Kadam S, Bongurala AR.   +3 more
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

Chromosomal abnormalities in non-obstructive azoospermic men prior to employment of assisted reproduction in Southeast Turkey

, 2015
Objective: The causes of male infertility are heterogeneous but more than 50% of cases have a genetic defect. Chromosomal abnormalities that affect on gametogenesis are one of the principle genetic factors in male infertility. The aim of this study is to
Evsen, Mehmet Sıddık, Balkan, Mahmut, Atar, Murat, Çakmakçı, Süleyman, Yıldız, İsmail, Hatipoğlu, N. Kemal, Bodakçı, Mehmet Nuri   +6 more
core  

Noninvasive prenatal tests for chromosomal abnormality screening in in vitro fertilisation elderly pregnant women in northwest China. [PDF]

J Med Biochem
Xue S, Wang L, Yu Z, Zhu J, Feng L, Din G, Dai P.   +6 more
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

Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL.

Blood, 2020
Watanabe A, Miyake K, Nordlund J, Syvänen AC, van der Weyden L, Honda H, Yamasaki N, Nagamachi A, Inaba T, Ikawa T, Urayama KY, Kiyokawa N, Ohara A, Kimura S, Kubota Y, Takita J, Goto H, Sakaguchi K, Minegishi M, Iwamoto S, Shinohara T, Kagami K, Abe M, Akahane K, Goi K, Sugita K, Inukai T.   +26 more
europepmc   +1 more source

Diagnosis of fetal megacystis with chromosomal abnormality by 2D prenatal ultrasound: A case report. [PDF]

Medicine (Baltimore), 2017
She F, Dong S, Yuan B, Gao X.
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

Pure Red Cell Aplasia and Chromosomal Abnormality in a Patient With Lung Adenocarcinoma Receiving Immune Checkpoint Inhibitors: A Case Report. [PDF]

In Vivo
Hirai T, Inomata M, Minatoyama S, Hashizume M, Takata N, Hayashi K, Seto Z, Tokui K, Taka C, Okazawa S, Kambara K, Imanishi S, Miwa T, Hayashi R, Tanaka S, Noguchi A, Sato T.   +16 more
europepmc   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source