Results 41 to 50 of about 97,105 (315)

Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1

, 2002
DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the X chromosome, gene 11 is a transcription factor expressed in the adrenal gland and at all levels of the gonadotrope axis.
Gaillard, R.C., Schorderet, D., Schorderet, D, Jameson, J.L., Pralong, F.P., Gaillard, RC, Fiaux, M., Achermann, JC, Salvi, R, Achermann, J.C., Gomez, F, Fiaux, M, Pralong, FP, Jameson, JL, Salvi, R., Gomez, F.   +15 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Complete Mouth Rehabilitation in a Patient with Fanconi Anaemia: A Rare Genetic Disorder [PDF]

Journal of Clinical and Diagnostic Research
Fanconi anaemia is a rare, progressive congenital bone marrow failure syndrome characterised by autosomal recessive inheritance and clinical manifestations, including growth retardation, bone marrow failure leading to pancytopenia, an elevated risk of ...
Maha Mahmoud, Saad AbdulMohsen AlQabbani, Sumit Rajinder Bedi, Sonali Vedraj Sharma   +3 more
doaj   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Dyke-Davidoff-Masson Syndrome

Journal of Nobel Medical College, 2012
Dyke-Davidoff-Masson Syndrome (DDMS) is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses ...
Naba Raj Koirala, Roshana Khadka, Manoj Bhattarai, Dibya Tulachan, Ajay Kumar Das, Jwalanta Poudel   +5 more
doaj   +1 more source

The Structural Adaptations That Mediate Disuse-Induced Atrophy of Skeletal Muscle

Cells, 2023
The maintenance of skeletal muscle mass plays a fundamental role in health and issues associated with quality of life. Mechanical signals are one of the most potent regulators of muscle mass, with a decrease in mechanical loading leading to a decrease in
Ramy K. A. Sayed, Jamie E. Hibbert, Kent W. Jorgenson, Troy A. Hornberger   +3 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Tooth marker of ecological abnormality: The interpretation of stress in extinct mega herbivores (proboscideans) of the Siwaliks of Pakistan

Ecology and Evolution, 2022
Climate affects living ecosystems and defines species physiology. Climate change causes certain stress on animals, recorded as Enamel Hypoplasia (EH). Proboscideans, the mega herbivores, were extensively represented in the Siwaliks of Pakistan between ...
Muhammad Ameen, Abdul Majid Khan, Rana Manzoor Ahmad, Muhammad Umar Ijaz, Muhammad Imran   +4 more
doaj   +1 more source

Changes in Suid and Caprine Husbandry Practices Throughout Dynastic Egypt Using Linear Enamel Hypoplasia (LEH) [PDF]

, 2011
Linear enamel hypoplasia (LEH) is the most commonly identified form of enamel defect in teeth. Defined as a deficiency in enamel thickness encountered during dental development, LEH can occur as horizontal lines or depressions of irregular enamel, or ...
BERTINI, LOUISE,CATHERINE
core