Results 71 to 80 of about 2,203,451 (295)

Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period.

, 2006
The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal ...
Fadi C., Ghina M., Makhoul G., Fadi B., Joseph R., Hala T., May K., Yunis, Khalid, Rashkidi, Joseph, Chamseddine, Fadi, Kassar, May, Khalid Y., Tamim, Hala, Mumtaz, Ghina, Bitar, Fadi, Makhoul, Ghaith   +15 more
core   +1 more source

Children with Congenital Heart Defects. Intellectual Functioning and Family Impact [PDF]

, 2019
The purpose of the present doctoral thesis was to investigate intellectual functioning and the influence of the children with congenital heart defects in their families.
Ryberg, Carmen
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

How Emotion Regulation and Illness Identity Shape Mental Health in Adults with Congenital Heart Disease

Medical Sciences
Background/Objectives: Adults with congenital heart disease (ACHD) are at increased risk for mental health problems, particularly depression and anxiety. Emerging evidence suggests that psychological rather than purely medical factors may play a decisive
Anna-Lena Ehmann, Daniel T. Marggrander, Janina Semmler, Felix Berger, Paul C. Helm, Constanze Pfitzer   +5 more
doaj   +1 more source

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families [PDF]

, 2010
Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level.
Emma-Jane Taylor, Liehr, Thomas, Susanne Morlot, Joana Trindade, Ocraft, Kevin, Ana I Paramos, Viv K Maloney, Paramos Ana I, Bunyan Dave, Curtis, Merryl, Claudia Alves, Merryl Curtis, Maloney, Viv K., Dermitzel Anette, Bunyan, Dave, Denise Robinson, Dermitzel, Anette, Thomas Liehr, Alves Claudia, John CK Barber, Kevin Ocraft, Taylor, Emma-Jane, Clare Cooper, Alves, Claudia, Taylor Emma-Jane, Anette Dermitzel, Curtis Merryl, Ocraft Kevin, Barber John CK, Cooper Clare, Paramos, Ana I., Cooper, Clare, Liehr Thomas, Barber, John C.K., Robinson, Denise, Trindade Joana, Morlot, Susanne, Morlot Susanne, Robinson Denise, Maloney Viv K, Dave Bunyan, Trindade, Joana   +41 more
core   +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

Geographic variation and localised clustering of congenital anomalies in Great Britain [PDF]

, 2007
Background Environmental pollution as a cause of congenital anomalies is sometimes suspected because of clustering of anomalies in areas of higher exposure.
Grundy C, Wellesley, D, Loane, M, Dolk Helen, Rankin Judith, Loane Maria, Rankin, Judith, Stone David, Loane M, Wellesley, D., Stone, D, Abramsky L, Stone, David, Pattenden, S., Armstrong, B.G., Dunn, C.E., Pattenden S, Armstrong BG, Armstrong, Ben G, Dolk, H, Dolk, H., Armstrong Ben G, Grundy, C., Boyd Patricia A, Boyd, Patricia A, Armstrong, B, Rankin, J., Boyd, P, Dunn, Chris E, Dunn CE, Loane, M., Wellesley, Diana, Boyd PA, Vrijheid, M., Stone, D., Grundy Chris, Vrijheid Martine, Dolk H, Abramsky, L, Stone D, Abramsky, Lenore, Abramsky Lenore, Vrijheid M, Grundy, C, Vrijheid, Martine, Grundy, Chris, Dolk, Helen, Boyd, P.A., Pattenden Sam, Wellesley Diana, Pattenden, Sam, Wellesley D, Dunn Chris E, Abramsky, L., Dunn, C, Pattenden, S, Boyd, P., Loane, Maria, Rankin J, Rankin, J   +59 more
core   +1 more source

Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome

, 2023
Hypoplastic left heart syndrome (HLHS) is a complex congenital heart disease characterized by hypoplasia of left-sided heart structures. The developmental basis for restriction of defects to the left side of the heart in HLHS remains unexplained.
Cecilia W. Lo, Hisato Yagi
core   +1 more source

Pentoxifylline dose finding trial in preterm neonates with suspected late onset sepsis (PTX‐trial)

British Journal of Clinical Pharmacology, EarlyView.
Aim The aim of this study (PTX‐trial) is to determine the optimal dose of pentoxifylline (PTX) in preterm neonates (gestational age < 30 weeks) with (suspected) late onset sepsis (LONS). Methods The PTX‐trial is a prospective multicentre open‐label sequential dose‐optimization study with an adapted continual reassessment method.
Serife Kurul, H. Rob Taal, Jan Mazela, Ryszard Lauterbach, Irwin K. M. Reiss, Karel Allegaert, Robert B. Flint, Sinno H. P. Simons   +7 more
wiley   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source