Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón +10 more
wiley +1 more source
A RARE CASE OF TUBAL PREGNANCY
Journal of Research in Medical Sciences, 2003 <font><font color="#555555"><span style="font-size: 10pt; font-family: Tahoma">The tubal pregnancy is one of the most emergency cases in Ob & Gyn.
A TORABIZADEH
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The Effect of Altered Mucin1, FGF2, and HBEGF Gene Expression at The Ectopic Implantation Site and Endometrial Tissues in The Tubal Pregnancy Pathogenesis: A Case-Control Study. [PDF]
Int J Fertil Steril, 2023 Noghrehalipour N +7 more
europepmc +1 more source
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
Trophoblastic Tissue Reimplantation below the Spleen Following Laparoscopic Bilateral Salpingectomy for Ectopic Tubal Pregnancy: A Case Report. [PDF]
Medicina (Kaunas), 2023 Surgontaitė D +5 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley +7 more
wiley +1 more source
Colony-stimulating factor 1 positive (CSF1+ ) secretory epithelial cells induce excessive trophoblast invasion in tubal pregnancy rupture. [PDF]
Cell Prolif, 2023 Zhao X +10 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Laparoscopic Management of Ectopic Pregnancy Occurring Ten Years After Tubal Sterilization
Gynecology Obstetrics & Reproductive Medicine, 2009 Ectopic pregnancy is still one of the leading causes of maternal mortality. Due to the popularity of elective sterilization procedures, the incidence of ectopic pregnancies following tubal sterilization began to increase in recent years and post ...
Tekin Durukan +5 more
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