Results 231 to 240 of about 359,410 (318)

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Cecal volvulus revealing previously undiagnosed intestinal non-rotation in adulthood: intraoperative diagnosis of a rare congenital anomaly. [PDF]

J Surg Case Rep
Pitaku I, Kecman S, Polutak A.
europepmc   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Developing Context-Appropriate Emotions: Longitudinal Changes in Emotion Reactivity and Emotion Regulation From 6 to 12 Months. [PDF]

Dev Sci
Suata ZM, Daubney K, Kostyrka-Allchorne K, Wass SV, Sonuga-Barke E.   +4 more
europepmc   +1 more source

Jaundice in Infancy

International Journal of Clinical Practice, 1957
openaire   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Time-Varying Exposure to Element Mixtures and Children's Cognition at 5 Years of Age: Findings from the New Hampshire Birth Cohort Study. [PDF]

Environ Health Perspect
Notario Barandiaran L, Bauer JA, Laue HE, Signes-Pastor AJ, Jackson BP, Peacock JL, Madan J, Bellinger DC, Korrick S, Karagas MR.   +9 more
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Longitudinal trends and determinants of dietary supplement administration during the first two years of life: a Korean birth cohort. [PDF]

Front Pediatr
Jeong J, Kim S, Jung M, Choi SJ, Oh SY, Jeong S, Yang YJ, Kim J, Ahn K.   +8 more
europepmc   +1 more source