Results 301 to 310 of about 13,965,872 (393)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Paediatric and Adolescent Gynaecology—a Multidisciplinary Approach

, 2004
Jane Schulte
openalex   +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

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Enhancing Hospital Throughput: A Multidisciplinary Approach to Facilitating Discharges in a Pediatric Setting. [PDF]

Pediatr Qual Saf
Harrison MW, Molina AL, Wu CL, Shaughnessy EE.   +3 more
europepmc   +1 more source

Sepsis and Multiple Organ Dysfunction: A Multidisciplinary Approach

, 2004
David J. Dries
openalex   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Diagnostic Challenges in Uncommon Firearm Injury Cases: A Multidisciplinary Approach. [PDF]

Diagnostics (Basel)
Failla AVM, Licciardello G, Cocimano G, Di Mauro L, Chisari M, Sessa F, Salerno M, Esposito M.   +7 more
europepmc   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

Breaking barriers: we need a multidisciplinary approach to tackle cancer drug resistance. [PDF]

BJC Rep
Ingham J, Ruan JL, Coelho MA.
europepmc   +1 more source