Results 81 to 90 of about 22,168 (264)

Sonic Hedgehog Signaling in Limb Development. [PDF]

, 2017
The gene encoding the secreted protein Sonic hedgehog (Shh) is expressed in the polarizing region (or zone of polarizing activity), a small group of mesenchyme cells at the posterior margin of the vertebrate limb bud. Detailed analyses have revealed that
Ahn, Alby, Allen, Amano, Anderson, Ashe, Balaskas, Bangs, Bangs, Bastida, Biesecker, Bouldin, Bouldin, Bowers, Buck, Burke, Buscher, Butterfield, Chang, Chen, Chevalier, Chiang, Chinnaiya, Clack, Cooke, Cooper, Cooper, Dahn, Dahn, Davenport, Davey, Davey, Delgado, Drossopoulou, Dunn, Duprez, Echelard, Ede, Elisa Piedra, Emechebe, Fallon, Farin, Fernandez-Teran, Fisher, Forsythe, French, Galli, Gofflot, Goodman, Gritli-Linde, Gurdon, Hardy, Harfe, Hayashi, Hayashi, Hill, Hill, Honig, Hu, Huang, Huang, Huangfu, Imokawa, Kalff-Suske, Kerszberg, Kiefer, Kohlhase, Kozhemyakina, Kruger, Kvon, Laufer, Leal, Lee, Lettice, Lettice, Lettice, Lewandowski, Lewis, Li, Litingtung, Lohan, Lopez-Rios, Maas, MacCabe, Marigo, Masuya, Mitgutsch, Mo, Muller, Nacu, Nelson, Niederreither, Niswander, Noji, Odent, Ohsugi, Pagan, Panman, Park, Parr, Pautou, Pickering, Pickering, Raspopovic, Riddle, Robson, Roosing, Ros, Rosello-Diez, Sagai, Sagai, Saiz-Lopez, Sanders, Sanz-Ezquerro, Saunders, Saunders, Scherz, Scherz, Schmidt, Sereno, Shaheen, Shapiro, Shapiro, Sharpe, Shellswell, Sheth, Smith, Smith, Stephen, Stopper, Stratford, Stratford, Summerbell, Summerbell, Suzuki, Suzuki, Tamura, te Welscher, Thewissen, Tian, Tickle, Tickle, Tickle, Tickle, Tickle, Tickle, Towers, Towers, Towers, Tumpel, Turing, VanderMeer, Vargas, Vargas, Vargesson, Vergnes, Verheyden, Vokes, Wagner, Wanek, Wang, Weatherbee, Welten, Wilby, Williamson, Wolpert, Wolpert, Woolley, Xu, Xua, Yakushiji, Yang, Yang, Zakany, Zeng, Zhao, Zheng, Zhu, Zhulyn, Zuniga, Zwilling, Zwilling   +181 more
core   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes [PDF]

, 2017
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to ...
Aral, B, Argente, J, Attie-Bitach, T, Baumann, C, Birnbaum, D, Blacque, OE, Bongers, E, Bruel, A-L, Burglen, L, Chevrier, V, Cormier-Daire, V, David, A, Deleuze, J-F, Desguerres, I, Dieux, A, Doray, B, Doummar, D, Duffourd, Y, Eguether, T, Faivre, L, Fargeot-Espaliat, A, Franco, B, Gaillard, D, Gigot, N, Gilbert-Dussardier, B, Giles, RH, Goldenberg, A, Goldstein, JS, Herranz-Pérez, V, Huynen, MA, Jego, L, Johnson, CA, Leroux, MR, Loget, P, Lopez, E, Morleo, M, Mégarbané, A, Nachury, MV, Panigrahi, I, Pasquier, L, Pazour, GJ, Phadke, SR, Pierquin, G, Reversade, B, Rivière, J-B, Rosnet, O, Saunier, S, St-Onge, J, Steichen-Gersdorf, E, Thauvin-Robinet, C, Thevenon, J, Wallingford, JB   +51 more
core   +3 more sources

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. [PDF]

, 2014
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, R., Alkuraya, F.S., Almoisheer, A., Alshiddi, T., Alzahrani, F., Beales, P.L., Faqeih, E., Hashem, A., Holder, I., Lausch, E., Mitchison, H.M., Mitchison, H.M., Schmidts, M., Shaheen, R., Superti-Furga, A.   +14 more
core   +2 more sources

Soft tissue abnormalities in the congenital limb malformation radial dysplasia (RD): Their clinical impact and treatment significance

Journal of Anatomy, EarlyView.
We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte, Sultan M. Al‐Zyoud, Eleanor M. Feneck, Duane James, Gillian D. Smith, Branavan Sivakumar, Malcolm P. O. Logan   +6 more
wiley   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

Pediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith, Eric Sanfilippo, Lara Wine Lee   +2 more
wiley   +1 more source

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome [PDF]

, 2022
Gözde Tutku Turgut, İbrahim Kalelioğlu, Volkan Karaman, Tuğba Saraç Sivrikoz, Birsen Karaman, Zehra Oya Uyguner, Tuğba Kalaycı   +6 more
openalex   +1 more source

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan, Ayana Cant, Kate Lewis, Vincent Nguyen, Laura Gimeno, Ania Zylbersztejn, Pia Hardelid, Joan Morris, Bianca De Stavola, Katie Harron, Ruth Gilbert, on behalf of the HOPE Study Team   +11 more
wiley   +1 more source

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

Cardiogenetics, 2011
Atrioventricular canal defect (AVCD) is a common congenital heart defect (CHD), representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly.
M. Cristina Digilio, Paolo Versacci, Francesca Lepri, Anwar Baban, Bruno Dallapiccola, Bruno Marino   +5 more
doaj   +1 more source