Results 251 to 260 of about 2,165,435 (385)

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

American 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, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Safe spaces as an alternative ​to the emergency department for suicidal distress: ​exploring guests' experiences​. [PDF]

BMC Health Serv Res
Chakouch C, Batterham PJ, Fitzpatrick SJ, Gulliver A, Calear AL, Oni HT, Banfield M, Shand F.   +7 more
europepmc   +1 more source

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

American 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, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Clinical and Demographic Characteristics Associated with Type 1 Diabetes Distress in Latin American Children. [PDF]

J Pediatr Clin Pract
Hirschler V, Benitez A, Marassi AE, Arrigo A, Andres E, Codner E, Rojas Godoy JP, Molinari C, Araujo L, Porta FP, Witte DR.   +10 more
europepmc   +1 more source

Outcomes from a Novel Approach to Studying Consumer Genetic Testing for Germline Cancer and Cardiovascular Risk

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the growing availability of consumer genetic testing for serious disease risks, outcomes data remain limited for individuals undergoing testing for high‐ and moderate‐penetrance genes. To address this gap, we evaluated the feasibility of the Consumer Genetic Testing Outcomes Evaluation Paradigm (CGT‐OEP), a novel approach for studying ...
Madison K. Kilbride, Daniel Chavez‐Yenter, Bob Wong, J. Scott Roberts, Jacqueline Park, Jason Iuliano, Angela R. Bradbury   +6 more
wiley   +1 more source

Letter from a Distressed Reader

, 1963
NULL AUTHOR_ID
openalex   +1 more source

Persistent ductus arteriosus complicating the respiratory distress syndrome. [PDF]

, 1977
Russell Jones, D Pickering
openalex   +1 more source

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

American 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, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Living With Advanced Pancreatic Cancer: Patients' Experiences of Daily Life. [PDF]

Psychooncology
Bergqvist J, Nordberg JH, Wode K, Sunde B, Fransson P, Bernhardson BM.   +5 more
europepmc   +1 more source