Results 191 to 200 of about 702,325 (310)

Concurrent follicular lymphoma and follicular dendritic cell sarcoma: composite neoplasm or transdifferentiation? [PDF]

J Hematop
Hajizadeh M, Fan J, Craig JW, Obiorah IE.   +3 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

A rare case of giant atypical parathyroid tumor presenting as a parathyroid adenoma - discussion of intraoperative challenges. [PDF]

J Surg Case Rep
Mohammed M, Raju S, Salami N, Kim SU, Guan A, Malkoc A, Magpayo J, Ramiscal JA.   +7 more
europepmc   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

An Invited Updated Systematic Review and Meta-Analysis Comparing Atypical Anorexia Nervosa and Anorexia Nervosa. [PDF]

Int J Eat Disord
Lee V, Hagan KE, Walsh BT.
europepmc   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Clinical Applicability of the WHO Reporting System for Axillary Lymph Node Fine-Needle Aspiration in Invasive Breast Carcinoma. [PDF]

Cancers (Basel)
Canepa M, Chang A, Graff SL, Wang Y.
europepmc   +1 more source

Prevalence and Risk Factors of Endometrial Carcinoma Associated with Endometrial Polyps: A Retrospective Study of 2588 Polish Patients. [PDF]

Diagnostics (Basel)
Kiestrzyn ZM, Wilczak M, Chmaj-Wierzchowska K.   +2 more
europepmc   +1 more source

Atypical Speech

EURASIP Journal on Audio, Speech, and Music Processing, 2010
Georg Stemmer, Elmar Nöth, Vijay Parsa
openaire   +2 more sources