Results 321 to 330 of about 87,727 (384)

<i>CDK4</i> loss-of-function mutations cause microcephaly and short stature. [PDF]

Genes Dev
Verdu Schlie A, Leitch A, Arismendi MI, Stok C, Castro Leal A, Parry DA, Marcondes Lerario A, Harley ME, Lucheze B, Carroll PL, Musialik KI, Auer JMT, Martin CA, Gerasimavicius L, Quigley AJ, de Menezes Correia-Deur JE, Marsh JA, Reijns MAM, Lampe AK, Jackson AP, Jorge AAL, Tamayo-Orrego L.   +21 more
europepmc   +1 more source

Long‐term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRI

Epilepsia Open, Volume 10, Issue 5, Page 1605-1616, October 2025.
Abstract Objective Neonatal seizures initiate the onset of epilepsy in less than 20% of cases. Establishing accurate and prompt diagnosis for precision medicine, offering tailored care, and informing families about neurodevelopmental prognosis represents a significant challenge.
Thibault Beretti, William Rozalen, Laurent Villard, Florence Riccardi, Geraldine Daquin, Anne Lepine, Nathalie Villeneuve, Mathieu Milh, Béatrice Desnous   +8 more
wiley   +1 more source

Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell‐free DNA screening

Journal of Genetic Counseling, Volume 34, Issue 5, October 2025.
Abstract Cell‐free DNA screening (cfDNA), also referred to as noninvasive prenatal screening (NIPS), is utilized to screen for fetal chromosomal aneuploidies during pregnancy, including sex chromosome aneuploidies (SCAs). All patients within our center are offered diagnostic testing following a positive cfDNA for an SCA, but not all patients pursue ...
Cali FitzGerald, Shama P. Khan, Pranali Shingala, Gary Heiman, Elena Ashkinadze   +4 more
wiley   +1 more source

First Report of MPL c.23T>G (p.M8R) Variant in Congenital Amegakaryocytic Thrombocytopenia: A Case Report

eJHaem, Volume 6, Issue 5, October 2025.
ABSTRACT Congenital amegakaryocytic thrombocytopenia is a rare inherited bone marrow failure syndrome primarily caused by MPL gene mutations. It presents with severe neonatal thrombocytopenia and typically progresses to pancytopenia. We report the first disease‐associated case of the MPL variant c.23T>G, identified through whole‐exome sequencing in an ...
Atbin Latifi, Sina Yousefian
wiley   +1 more source

Research progress of kinesin family in neurological diseases. [PDF]

Front Cell Neurosci
Liu S, Chen J, Shi L, Deng Y, Wang Z.
europepmc   +1 more source

Gene and RNA Editing: Revolutionary Approaches to Treating Diseases

MedComm, Volume 6, Issue 10, October 2025.
The image illustrates gene editing technologies: DNA editing using CRISPR–Cas9 and RNA editing via Cas13d, with their clinical applications and ethical risks. DNA editing allows precise gene modifications for conditions like amyotrophic lateral sclerosis [ALS] and Huntington's disease, while RNA editing supports multiplexed modifications.
Jia‐Mei Li, Jie Huang, Yan Liao, Ting Hu, Chang‐Li Wang, Wang‐Zheqi Zhang, Chen‐Wei Huang   +6 more
wiley   +1 more source

Expanding the Clinical Phenotype Associated with the <i>NIN</i> Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss. [PDF]

Arch Iran Med
Zamanian Najafabadi S, Ghorbanoghli Z, Ghaderi Z, Afroozan F, Talea A, Ahangari F, Makvand M, Najmabadi H, Kariminejad A.   +8 more
europepmc   +1 more source

Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review. [PDF]

Ital J Pediatr
Tian A, Li S, Liang F, Yao M, Mostafavi N, Li Y, Luo X, Zhang C.   +7 more
europepmc   +1 more source

Postural assessment of children with congenital Zika syndrome and caregivers in the home environment: a cross-sectional pilot study. [PDF]

Sao Paulo Med J
Tavares JS, Regis TS, Gama GL, Gregório JGR, Tavares JS, Melo A, Scherer D.   +6 more
europepmc   +1 more source

Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity. [PDF]

Case Rep Genet
Mikhailova T, Garg R.
europepmc   +1 more source