Results 31 to 40 of about 1,970 (197)

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome

Clinical Genetics, Volume 104, Issue 1, Page 114-120, July 2023., 2023
Clinicians should suspect NAD deficiency disorder when a patient presents with congenital malformations, especially when vertebral, cardiac, renal, or limb defects are present. We expanded NAD deficiency disorder spectrum with the presentation of three cases from two unrelated families, with high inter‐ and intra‐familial variability.
Marion Aubert‐Mucca, Caroline Janel, Valérie Porquet‐Bordes, Olivier Patat, Renaud Touraine, Thomas Edouard, Caroline Michot, Aude Tessier, Valérie Cormier‐Daire, Tania Attie‐Bitach, Geneviève Baujat   +10 more
wiley   +1 more source

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]

, 2019
Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M, Berauer, John‐Paul, Bezerra, Jorge A, Bull, Laura N, Chopra, Pankaj, Cutler, David J, Finegold, Milton J, Gibbs, Richard A, Guthery, Stephen L, Harpavat, Sanjiv, Hegde, Madhuri R, Kamath, Binita M, Karpen, Saul J, Loomes, Kathleen M, Magee, John C, Mezina, Anya I, Molleston, Jean P, Moore, Barry, Murray, Karen F, Muzny, Donna M, Network, for the Childhood Liver Disease Research, Okou, David T, Perlmutter, David H, Rajagopalan, Ramakrishnan, Rosenthal, Philip, Russo, Pierre, Sabo, Aniko, Sherker, Averell H, Sokol, Ronald J, Spinner, Nancy B, Squires, Robert H, Thompson, Richard J, Wang, Kasper S, Yandell, Mark   +33 more
core   +2 more sources

Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]

, 2013
We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R, Silverman, Norman H, Solomon, Julia E, Stock, John H   +3 more
core   +2 more sources

Congenital Portosystemic Shunt Presenting As Hyperammonemia Following Fontan Operation

JPGN Reports, Volume 4, Issue 1, February 2023., 2023
The Fontan operation allows survival for children with single ventricle congenital heart disease. In the acute postoperative period, perioperative insults and drastic changes in vascular pressures can potentially cause ischemic liver injury. We present a 3‐year‐old female with congenital heart disease presenting post‐Fontan procedure complicated by ...
Kayla Morneault, April Mathews, Priya Sharma, Genie Beasley   +3 more
wiley   +1 more source

A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature

Molecular Genetics &Genomic Medicine, Volume 10, Issue 12, December 2022., 2022
A single heterozygous mutation in the TTC21B gene may cause atypical NPHP12, which had a relatively later onset and milder clinical symptoms without developmental abnormalities. Abstract Background Nephronophthisis type 12 (NPHP 12) is a rare cilia‐related cystic kidney disease, caused by TTC21B mutation, mainly involving the kidneys, which generally ...
Dan Wang, Xionghui Chen, Qiong Wen, Zhijian Li, Wei Chen, Wenfang Chen, Xin Wang   +6 more
wiley   +1 more source

A 0.5-Mbp deletion on bovine chromosome 23 is a strong candidate for stillbirth in Nordic Red cattle [PDF]

, 2016
201
de Koning, Dirk-Jan, Guldbrandtsen, Bernt, Iso-Touru, Terhi, Sahana, Goutam, Sander Nielsen, Ulrik, Sandø Lund, Mogens, Vilkki, Johanna, Wu, Xiaoping   +7 more
core   +7 more sources

Outcome of prenatally diagnosed fetal heterotaxy: A systematic review and meta-analysis. [PDF]

, 2017
OBJECTIVES: To assess the perinatal outcomes of fetuses affected by heterotaxy. METHODS: Medline, Embase and Cinhal were searched. Only studies reporting a prenatal diagnosis of isomerism were included.
Abuhamad, Atkinson, Bardin, Baschat, Berg, Bronshtein, Brueckner, Carvalho, Collins, Degenhardt, Ditchfield, Dreux, Egger, Escobar-Diaz, Friedberg, Gaur, Gottschalk, Henderson, Ho, Hoefstaetter, Hunter, Icardo, Jacobs, Kennedy, Kheiri, Kothari, Ladd, Lee, Leeflang, Lim, Lin, Loomba, Loomba, Manzoli, McKiernan, Nakada, Nemec, NHS Centre for Reviews and Dissemination, Ozkutlu, Paladini, Pasquini, Peoples, Pepes, Phoon, Pockett, Shen, Shen, Taketazu, Tan, Tan, Varela-Fascinetto, Yan   +51 more
core   +1 more source

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations [PDF]

, 2012
Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of ...
Amack, J.D., Belmont, J.W., Bertoli-Avella, A.M., Breedveld, G., Devriendt, K., French, V.M., Frohn-Mulder, I.M.E., Graaf, B.M. de, Graaff, E. de, Helbing, W.A., Jadot, E., Jiang, Z.X., Laar, I.M.B.H. van de, Meijers-Heijboer, E.J., Mientjes, E., Najmabadi, H., Oostra, B.A., Rahimi, Z., Rohe, C., Roos-Hesselink, J.W., Schot, R., Severijnen, L.A., Swagemakers, S., Tienhoven, M. van, Venselaar, H., Verkerk, A., Wang, G.L., Wessels, M.W., Willemsen, R.   +28 more
core   +9 more sources

Extrahepatic Anomalies in Infants With Biliary Atresia: Results of a Large Prospective North American Multicenter Study [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/100275/1/hep26512 ...
Bezerra, Jorge A, Bove, Kevin, Haber, Barbara H, Karpen, Saul J, Kerkar, Nanda, Mack, Cara L, Magee, John C, Molleston, Jean P, Moore, Jeffrey, Murray, Karen F, Network, Childhood Liver Disease Research and Education, Ng, Vicky L, Romero, René, Rosenthal, Philip, Schwarz, Kathleen B, Shneider, Benjamin L, Sokol, Ronald J, Turmelle, Yumirle P, Wang, Kasper S, Whitington, Peter F   +19 more
core   +2 more sources