Results 51 to 60 of about 1,250,329 (187)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

When you find a tooth in the brain, call joubert for help

APIK Journal of Internal Medicine, 2020
Joubert syndrome is an extremely rare autosomal recessive condition characterized by agenesis of the cerebellar vermis. This has characteristic imaging features which have been described in this article.
Suhas Murali, Karthik Nagraj
doaj   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, Volume 11, Issue 5, Page 1395-1412, October 2026.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Joubert syndrome: a case report

Bulletin of Faculty of Physical Therapy, 2021
Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and ...
Sarfaraz Alam, Fatema Khatoon, Nazim Khan   +2 more
doaj   +1 more source

Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia

Pediatric Pulmonology, Volume 61, Issue 10, October 2026.
ABSTRACT Introduction Primary ciliary dyskinesia (PCD), a disorder of motile ciliary dysfunction causing chronic respiratory infections, may also rarely present with aspects of non‐motile ciliary dysfunction, including retinitis, central nervous system malformations, skeletal dysplasia, and sensorineural hearing loss.
Abigail Bergman‐Sieger, Marc‐André Turcot, Lawrence E. Ostrowski, Patrick R. Sears, Maimoona A. Zariwala, Fateh Bechkir, Lisa R. Young, Adam J. Shapiro, Maureen B. Parenti   +8 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Joubert Syndrome - A Case Report [PDF]

, 2013
Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia ...
Bandichhode S. T., Anand Pandav, Anitha M. S.   +2 more
core  

Early postnatal genetic diagnosis for Joubert Syndrome Type 14 [PDF]

, 2023
BACKGROUND: Joubert syndrome is an autosomal recessive condition characterised by a midbrain-hindbrain malformation giving rise to the characteristic “molar tooth sign” on MRI.
Farrugia, Ryan, Said Conti, Valerie, De Battista, Nadine Anne   +2 more
core   +2 more sources

Genetic diseases with impaired central respiratory control

The EuroBiotech Journal, 2017
Respiration is controlled by the complex orchestration of central nervous system centers, peripheral chemoreceptors and muscles of respiration and is shaped by complex ontogenetic factors.
Rosso Lourdes M. Del, Ferri Raffaele
doaj   +1 more source

First Split Liver Transplantation Using VitaSmart Hypothermic Machine Perfusion in the United States

Pediatric Transplantation, Volume 30, Issue 10, October 2026.
ABSTRACT Background Dynamic perfusion techniques are increasingly used in liver transplantation to improve graft preservation and support preimplantation assessment. Its reported use in split liver transplantation remains limited. We report the first use of the VitaSmart hypothermic perfusion device for graft preservation during ex situ split in the ...
Anastasia M. Kahan, Francisca van der Schyff, Todd Robinson, Ivan Rodriguez, Tavis Shaw, Enoch Zenger, M. Kyle Jensen, Jean F. Botha, Zachary J. Kastenberg   +8 more
wiley   +1 more source