Russell-silver syndrome - Open Access .click

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Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul +10 more
wiley +1 more source

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

, 2021
Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907).
Lloreda-garcia, Jose Maria +8 more
core +1 more source

Shared dysregulation of complement and phosphorylation pathways in the cerebrospinal fluid of encephalitis, Aicardi–Goutières syndrome, and autism

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify shared and disorder‐specific molecular alterations across encephalitis, Aicardi–Goutières syndrome (AGS), and autism spectrum disorder (ASD) using cerebrospinal fluid (CSF) proteomics. Method In this cross‐sectional case–control study, mass‐spectrometry‐based proteomics was performed on archived CSF samples collected between ...
Omar H. Shadid +8 more
wiley +1 more source

Dental and craniofacial anomalies in Silver-Russell Syndrome

, 2004
AIM: This was to describe the orofacial findings in the patients affected by Silver-Russell Syndrome and to show the dentist’s role in preventing severe dentofacial and general medical consequences.
U. Garagiola, E. Re, V. Ghiglione
core +2 more sources

Association of Assisted Reproductive Technology Treatments with Imprinting Disorders

Global Medical Genetics, 2021
Assisted reproductive technology (ART) is a broad field in infertility that encompasses different types of treatments. These revolutionary treatment methods aimed to aid infertile or subfertile couples. Treatment was expanded exponentially, as 1 to 3% of
T. Kopca, Pinar Tulay
doaj +1 more source

Transfusion intensity in the ICU: Reasons and triggers

Transfusion, EarlyView.
Abstract Background The reasons and physiological triggers for blood transfusion in critically ill patients are not well characterized. Beyond hemoglobin levels, hemodynamic instability is frequently cited, but its role across clinical contexts remains unclear.
Merijn C. Reuland +286 more
wiley +1 more source

Russell-Silver Syndrome: A Case Report with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Russell-Silver syndrome is a disorder present at birth characterized by low birth weight, poor postnatal growth, craniofacial disproportion, clinodactyly, normal intelligence, downward curvature of the corner of the mouth, syndactyly, cafe-au-fait spots,
Sreedevi +4 more
doaj +1 more source

An exploratory evaluation of the frequency of perioperative changes in electrolyte, acid–base, creatinine, glucose, and lactate variables in dogs and cats undergoing cranial surgery for tumor resection

Veterinary Surgery, EarlyView.
Abstract Objective To explore the frequency and severity of abnormalities in perioperative point‐of‐care bloodwork in dogs and cats undergoing cranial surgery for tumor resection with particular emphasis on dyskalemia development. Study design Retrospective observational study. Animals A total of 61 dogs and 14 cats undergoing cranial surgery for tumor
Zoe E. Weiss +4 more
wiley +1 more source

Don B. Russell

, 2011
A school photo of Don B ...
Chuck Russell
core +1 more source

Processamento auditivo, leitura e escrita na síndrome de Silver-Russell: relato de caso Auditory processing, reading and writing in the Silver-Russell syndrome: case report

Revista da Sociedade Brasileira de Fonoaudiologia, 2012
O objetivo deste trabalho foi descrever os aspectos fonoaudiológicos de processamento auditivo, leitura e escrita de um paciente do gênero masculino com diagnóstico de síndrome de Silver-Russell.
Patrícia Fernandes Garcia +4 more
doaj +1 more source

silver-russell syndrome
short stature
silver–russell syndrome

genetics
medicine
beckwith-wiedemann syndrome

imprinting disorders
igf2