Results 271 to 280 of about 906,113 (354)
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Evaluation of at-risk infant care: comparison between models of primary health care. [PDF]
Rev Saude Publica, 2019 Samelli AG +5 more
europepmc +1 more source
The Effect of Medical Care on Infant Mortality in the United States in the Early 20th Century
, 2015 A. Staines
openalex +1 more source
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
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
A Qualitative Analysis of How Mothers' Social Networks Are Established and Used to Make Infant Care Decisions. [PDF]
Clin Pediatr (Phila), 2019 Moon RY, Mathews A, Oden R, Carlin R.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti +14 more
wiley +1 more source
A Population‐Based Assessment of Cancer Risk in Children With VACTERL
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark +15 more
wiley +1 more source