Results 191 to 200 of about 157,517 (293)

Chronic atrial and intestinal dysrythmia syndrome: A late‐onset intestinal pseudo‐obstruction and cardiac dysfunction due to an SGO1 mutation

open access: yesJPGN Reports, EarlyView.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a rare, heterogeneous, and severe gut motility disorder. In 2014, Chetaille et al. described chronic atrial and intestinal dysrhythmia (CAID) syndrome associated with a recessive SGO1 mutation (p.Lys23Glu) linking it to both intestinal pseudo‐obstruction and cardiac dysrhythmia. This
Linda Adouane   +4 more
wiley   +1 more source

Genetically determined Alzheimer's disease research advances: The Down Syndrome & Autosomal Dominant Alzheimer's Disease 2024 Conference. [PDF]

open access: yesAlzheimers Dement
Falgàs N   +58 more
europepmc   +1 more source

New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. [PDF]

open access: bronze, 1995
Marc Vérin   +9 more
openalex   +1 more source

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly [PDF]

open access: bronze, 1999
Luisa Nanni   +16 more
openalex   +1 more source

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB. [PDF]

open access: yesSci Rep
Fernández-Caballero L   +12 more
europepmc   +1 more source

On the probability that kidneys are different in autosomal dominant polycystic disease

open access: bronze, 1992
Kenneth D. Gardner   +6 more
openalex   +1 more source

STARDEV Study: Neurodevelopmental Trajectory and Long‐Term Outcomes of Patients with Startle Disease/Hyperekplexia

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long‐term clinical outcomes is lacking. Objectives We provide a long‐term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory. Methods Twenty‐eight patients from nine French hospitals
Diane Pina   +19 more
wiley   +1 more source

Sex differences in the executive and behavioral reserve of autosomal dominant frontotemporal dementia. [PDF]

open access: yesAlzheimers Dement
Garcia Castro J   +29 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy