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Personal journeys to and in human genetics and dysmorphology.
Am J Med Genet A
June 2024
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Article Synopsis
- - Over the past 50-60 years, genetics and dysmorphology have become essential in medicine, helping diagnose rare diseases and informing various medical specialties.
- - Both fields heavily depend on molecular geneticists for identifying genes linked to disorders, showcasing their interconnectedness in patient care.
- - The memoirs collected highlight the personal journeys of professionals in these specialties, emphasizing their adaptability and the chance experiences that led them to enjoy a career in genetics and dysmorphology.
Evolution in the clinic: Maladaptive units and "minor anomalies".
Am J Med Genet A
February 2023
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.
It is here argued that the application of the term "minor anomalies" is often imprecise and likely outdated. In the past, the designation was used indiscriminately to refer to a great variety of unrelated morphogenetic phenomena. Also, the term does not discriminate between mild qualitative defects of development (mild malformations) and quantitative variants of normal structure.
View Article and Find Full Text PDFLiving history biography: An afterthought.
Am J Med Genet A
May 2021
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Jacqueline A. Noonan.
Am J Med Genet A
December 2020
Division of Medical Genetics, Department of Pediatrics, Human Genetics, Pathology, and Obstetrics & Gynecology, University of Utah, Salt Lake City, Utah, USA.
An evolutionary and developmental biology approach to gastroschisis.
Birth Defects Res
April 2019
Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.
Recent advances have now made it possible to speak of gastroschisis narrowly in morphogenetic terms invoking the Rittler-Beaudoin (R-B) model. This proceeds from the appreciation of gastroschisis as a congenital intestinal herniation (without cover or liver) within the primordial umbilical ring, mostly to the right side of a normally formed umbilical cord. Presently, it is unresolved whether this visceral prolapse represents failure of ring closure before return of the physiological hernia into the abdomen or rupture of the delicate amniotic/peritoneal membrane at the ring's edge to the right of the cord.
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