Results 91 to 100 of about 8,700 (250)

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly [PDF]

, 2016
Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype
Anne Debant, Ba, Barbelanne, Bellanger, Bragin, Briançon-Marjollet, Cannet, Catherine Mercer, Chhatriwala, Christine Fagotto-Kaufmann, David Goudie, de Ligt, DeLano, Dent, Dent, Deo, Diana Baralle, Eleanor G Seaby, Estrach, Etienne-Manneville, Govek, Grix, Hu, Huber, M Reza Jabalameli, Ma, McLaren, McPherson, Mercer, Michael J Parker, O'Brien, Peng, Pengelly, Pengelly, Portales-Casamar, Reuben J Pengelly, Robinson, Sarah Ennis, Sarju G Mehta, Schmidt, Skowronek, Stephanie Greville-Heygate, Susanne Schmidt, van Bokhoven, van Haren, Zong   +45 more
core   +5 more sources

A systematic review of brain health in adults with chronic pain

Anaesthesia, Volume 81, Issue 2, Page 248-262, February 2026.
Summary Introduction Recent research has linked chronic pain with an increased risk of clinical dementia diagnosis. Yet structural and functional brain changes associated with chronic pain and their potential role in accelerating brain ageing have not been characterised comprehensively.
Angeline Lee, Sara Al‐Dahwi, Thomas Angell, Abinaya Arulalagan, Ryan Bloxsom, Harry Clarkson, Rose Faure, Soutiam Goodarzi, Minshu Gupta, Adithya Kale, Kin Lam, Freyia Mahon‐Daly, Chloe Parry, Vidushi Pradhan, Finlay Ryan‐Phillips, Suraj Shah, Serina Sidhu, John Smiddy, Aparna Sridhar, Syed F. Tahmid, Robert Wight, Nia Roberts, Anya Topiwala   +22 more
wiley   +1 more source

A Qualitative Study of Communication between Young Women with Disorders of Sex Development and Health Professionals [PDF]

, 2015
Background and Objectives. Health communication is a critical aspect of care for both providers and recipients having a direct influence on engagement and outcomes.
Carter, Bernie, Sanders, Caroline
core   +5 more sources

Healthcare Utilisation and Barriers and Facilitators of Healthcare Access for Young People With Intellectual Disability: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 2, Page 130-161, February 2026.
ABSTRACT Background Young people with intellectual disability may exhibit poorer general health, higher mortality rates and greater limitations from physical or mental illnesses compared to the general population. It is important to understand how this may relate to healthcare utilisation, including factors influencing healthcare access for young ...
Felicia Kreps, Shalini Wijekulasuriya, Yvonne Zurynski, Rebecca Mitchell   +3 more
wiley   +1 more source

A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA) [PDF]

, 2012
How to Cite this Article: Karimi M, Fallah R. A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA). Iran J Child Neurol 2012; 6(3): 45-48.
FALLAH, Razieh, KARIMI, Mehran
core   +3 more sources

Inhibitory effect of oestradiol on the cardiac KV7.1/KCNE1 channel is species dependent

Experimental Physiology, Volume 111, Issue 1, Page 54-68, 1 January 2026.
Abstract Oestradiol (17β‐E2) is reported to prolong the cardiac action potential duration and QT interval, in part by affecting cardiac ion channels. Previous studies found inhibiting 17β‐E2 effects on the repolarizating cardiac KV7.1/KCNE1 channel, or its native current, in heterologous expression systems or tissue from animal species.
Veronika A. Linhart, Lucas Dauga, Sara I. Liin   +2 more
wiley   +1 more source

SCN9A channelopathy associated autosomal recessive Congenital Indifference to Pain : a case report

, 2017
Background: Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities.
Cauwels, Rita, Domingues, Luciana, Martens, Luc, Rajasekharan, Sivaprakash   +3 more
core   +1 more source

Advanced‐Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Süleyman Cemil Oğlak, Nilgün Söğütçü, Sedat Akgöl, Özgür Adıgüzel, Hümeyra Elif Ateş Eminoğlu, Gizem Güzel, Veysi Balcı, Emine Acar, Abdullah Acar, Fuat Bozan, Aneek Das Bhowmik   +10 more
wiley   +1 more source

Subtype-Selective Small Molecule Inhibitors Reveal a Fundamental Role for Nav1.7 in Nociceptor Electrogenesis, Axonal Conduction and Presynaptic Release. [PDF]

, 2016
Human genetic studies show that the voltage gated sodium channel 1.7 (Nav1.7) is a key molecular determinant of pain sensation. However, defining the Nav1.7 contribution to nociceptive signalling has been hampered by a lack of selective inhibitors.
Alexandrou, AJ, Brown, AR, Butt, RP, Castle, NA, Chapman, ML, Cox, PJ, Dib-Hajj, SD, Doyle, R, Estacion, M, Gutteridge, A, Hounshell, JA, Krafte, D, Lin, Z, Marron, BE, Mis, MA, Patel, MK, Payne, EC, Printzenhoff, D, Randall, A, Rivara, M, Stevens, EB, Storer, RI, Stupple, PA, Swain, NA, Turner, J, Waxman, SG, West, C, Wilbrey, A   +27 more
core   +1 more source

Ocular manifestations of analgesia syndrom in children

Российский офтальмологический журнал, 2018
Congenital analgesia is characterized by insensitivity to pain. Children with this syndrome feel no physical pain when biting their tongues, lips, cheeks or fingers, which often results in significant bleeding.
L. S. Khamraeva, L. Yu. Bobokha
doaj   +1 more source