ArticleJBRA assisted reproduction2018
Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report.
Article in JBRA assisted reproduction, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.Nature reviews. Endocrinology · 2026Review
- Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India.Endocrine · 2024Article
- Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges.Cancer pathogenesis and therapy · 2024Review
- Integrated treatment guided by RNA-seq-based endometrial receptivity assessment for infertility complicated by MEN1.Frontiers in endocrinology · 2023Article
- A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis.Annals of translational medicine · 2021Review
- Multiple endocrine neoplasia 1: a broad overview.Therapeutic advances in chronic disease · 2021Review
- Hereditary Syndromes in Neuroendocrine Tumors.Current treatment options in oncology · 2020Review
- Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.Human mutation · 2018Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a successful preimplantation genetic diagnosis (PGD) involving a couple at-risk for MEN1 syndrome, with a birth of a healthy infant. The couple underwent a cycle of controlled ovarian stimulation and intracytoplasmic sperm injection (ICSI). Embryos were biopsied at the blastocyst stage and cryopreserved; we used PCR-based DNA analysis for PGD testing. Only one of the five embryos analyzed for MEN1 syndrome was unaffected. This embryo was thawed and transferred following endometrial preparation. After positive βHCG test; clinical pregnancy was confirmed by ultrasound, and a healthy infant was born. PGD for single gene disorders has been an emerging therapeutic tool for couples who are at risk of passing a genetic disease on to their offspring.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.