Results 11 to 20 of about 1,238,800 (147)

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature [PDF]

BMC Endocrine Disorders, 2019
Background Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Anne D. D. Joseph, Nirmala D. Sirisena, Thirunavukarasu Kumanan, Vathualan Sujanitha, Veronika Strelow, Raina Yamamoto, Stefan Wieczorek, Vajira H. W. Dissanayake   +7 more
doaj   +4 more sources

Primary Hypoparathyroidism Presenting as Idiopathic Intracranial Hypertension in a Patient With Barakat Syndrome [PDF]

Cureus, 2022
Unlike hyperparathyroidism, hypoparathyroidism is rarely encountered in clinical practice. Usually, it results from surgical resection, an autoimmune phenomenon, or an infiltrative process. Under certain circumstances, one may encounter a genetic etiology of hypoparathyroidism, often combined with myriad other syndromic manifestations. We report a case
Alkaissi, Hussam R, Banerji, Mary A
openaire   +3 more sources

Cardiovascular Disease (CVD) Risk in Women With Endometriosis: A Comprehensive Meta-Analysis. [PDF]

Clin Cardiol
ABSTRACT Background Cardiovascular disease (CVD) remains the leading cause of mortality globally. Emerging evidence indicates that cardiovascular risk in women is frequently underestimated, underscoring the importance of recognizing sex‐specific contributors.
Mylavarapu M, Samuel J, Thandi R, Mubashir R, Veeranagari VR, Barakat A, Neto JFB, Osman A, Thiyagarajan S, Mohamed R, Hassan MJ.   +10 more
europepmc   +2 more sources

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients. [PDF]

Clin Genet
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Bergès C, Sauvestre C, Naudion S, Delorme CV, Smol T, Rama M, Moortgat S, Maystadt I, Kersseboom R, Wilke M, Barakat TS, Vial Y, Perrin L, Passemard S, Ahmad F, Umair M, Haack T, Grimmel M, Kuechler A, Slavotinek A, Devine P, Hodoglugil U, Zafar F, Afzal E, Dudding-Byth T, Jouret G, Herissant L, Efthymiou S, Houlden H, Legendre M, Michaud V.   +30 more
europepmc   +2 more sources

A rare cause of primary hypoparathyroidism due to a novel mutation in the GATA3 gene – the Barakat syndrome [PDF]

International Journal of Pediatric Endocrinology, 2013
Barakat syndrome, also known as HDR syndrome (hypoparathyroidism, deafness and renal dysplasia), is a rare autosomal dominant disorder, secondary to muta- tion of the GATA3 gene which is located at chromosome 10p. The GATA3 protein is one of the transcription factors which play an essential role in the embryonic development of the parathyroids, inner ...
Wong, SMY, But, WM, Chan, Angel, Chan, W
openaire   +2 more sources

SUN-522 Hypoparathyroidism: When to Suspect Barakat Syndrome: A Case Report

Journal of the Endocrine Society, 2019
Background There are several causes of hypoparathyroidism among the least common are the genetic causes. Barakat syndrome also known as HDR syndrome is a rare genetic disorder characterized by the triad of hypoparathyroidism “H,” neurosensorial deafness “D,” and renal disease “R.” This is caused by deletions in chromosome 10p14 or mutations in the ...
Garate Chirinos, Dioni, Pulgar Sedó, Isabel   +1 more
openaire   +2 more sources

The Mediating Role of Metacognitive Beliefs in Self-Compassion and Schizophrenia Recovery. [PDF]

Brain Behav
ABSTRACT Introduction Schizophrenia is a chronic psychiatric disorder that significantly affects individuals’ mental health. Sustained personal recovery in schizophrenia is a multidimensional process that extends beyond symptom reduction and may be significantly influenced by psychological resources and cognitive appraisals.
Darwish SS, Al-Sarahneh A, Dibas M, Ali A, Hamed A, Barakat A, Othman A, ElBoraie H, Hamzaa H, Ali W.   +9 more
europepmc   +2 more sources

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome. [PDF]

Clin Genet
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
van Oirsouw ASE, Hsieh TC, Koetsier M, Alali A, Albuainain F, Bacchelli E, Barakat TS, Capri Y, Chantot-Bastaraud S, Capra V, Carere DA, Clement E, Elkhateeb N, Franchi M, Li JM, Matthews N, McNiven V, Mehta SG, Nakamura M, Phornphutkul C, Revencu N, Scala M, Shallow N, Stefanich J, Viggiano M, Visconti P, Walker S, Zara F, Alders M, Koeleman BPC, Oegema R.   +30 more
europepmc   +2 more sources

SUN-521 Intracranial Calcifications Outside the Basal Ganglia at Presentation of Barakat Syndrome

Journal of the Endocrine Society, 2019
Hypoparathyroidism-sensorineural Deafness-Renal dysgenesis (HDR, or Barakat) syndrome is an uncommon cause of hypoparathyroidism, representing fewer than 200 documented cases in the literature worldwide. Individuals with HDR have variable penetrance and a range of phenotypes.
Aguirre, Rebecca, Alradadi, Rasha, Sanchez, Juan, Imel, Erik   +3 more
openaire   +2 more sources

Hyperkalemia unveiled: A case of Barakat syndrome [PDF]

Indian Journal of Nephrology, 2020
Singh, Kulwant, Sethi, Jasmine, Bhargava, Vinant   +2 more
openaire   +3 more sources