Results 201 to 210 of about 79,932 (302)

Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY): a cohort study. [PDF]

Ultrasound Obstet Gynecol
Sonner S, Mckenna C, Flanagan C, Mckee S, Ververi A, Doyle S, Ong S, Mcknight AJ, Mone F.   +8 more
europepmc   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Monogenic Kidney Disorders as Hidden Drivers of Electrolyte Imbalance and Hypertension. [PDF]

Electrolyte Blood Press
Ahn YH.
europepmc   +1 more source

Transcriptome‐Based Identification of ZZEF1 and ENTPD5 as Candidate Genes for Dystonia

Movement Disorders, EarlyView.
Alexandra Rudnik, Mirja Thomsen, Vicente A. Yépez, Ai Huey Tan, Frauke Hinrichs, Sebastian Loens, Shen‐Yang Lim, Yi Wen Tay, Thomas Musacchio, Sören Franzenburg, Tobias Bäumer, Marius Möller, Hauke Busch, Christine Klein, Norbert Brüggemann, Katja Lohmann   +15 more
wiley   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy. [PDF]

Epilepsia Open
d'Orsi G, Costantino U, Di Claudio MT, Ferro CP, Palumbo P, Benvenuto M, Copetti M, D'Agruma L, Carella M, Castori M, Palumbo O.   +10 more
europepmc   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation. [PDF]

Mol Genet Genomic Med
Li X, Wang X, Liu X, Wang S, Yang W.
europepmc   +1 more source

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicenter cohort study of fetuses with a prenatal diagnosis of ACC undergoing ...
Lorraine Dugoff, Natalie Chandler, Stephanie Allen, Sarah A. Graham, Vicki Harrison, Anne McCabe, Anna de Burca, Audrey Smith, Erina Sasaki, Mairead Hagarty, Juliana S. Gebb, Shelly Soni, Sonika Agarwal, Beverly G. Coleman, Haley M. Crane, Mary E. Norton, Billie R. Lianoglou, Alex Gibbs, Lyn S. Chitty   +18 more
wiley   +1 more source