Results 211 to 220 of about 628,141 (359)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear   +16 more
wiley   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

open access: yesBJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä   +18 more
wiley   +1 more source

From Childhood to Adolescence: Long-Term Trends in Severe Obesity in German Youth (2002-2023). [PDF]

open access: yesObes Facts
Berisha A   +9 more
europepmc   +1 more source

Effects of an intensive inpatient rehabilitation program in elderly patients with obesity [PDF]

open access: yes, 2019
Berteotti, M.   +14 more
core   +1 more source

Waist Girth Does Not Predict Metabolic Complications in Severely Obese Men [PDF]

open access: bronze, 2006
Isabelle Lemieux   +6 more
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Two Year Reduction In Sleep Apnea Symptoms and Associated Diabetes Incidence After Weight Loss In Severe Obesity [PDF]

open access: bronze, 2007
Ronald R. Grunstein   +5 more
openalex   +1 more source

Obesity and Influenza Infection Severity [PDF]

open access: yesFuture Virology, 2014
Melinda A. Beck, J. Justin Milner
openaire   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

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