Results 31 to 40 of about 4,682 (148)

Crop biotechnology: prospects and opportunities [PDF]

, 2010
SUMMARYThis paper is a brief review summarizing some of the important areas of activity in crop biotechnology likely to be exploited over the medium term (10–20 years), with an emphasis on agronomic traits.
Dunwell, J. M.
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Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients [PDF]

, 2000
Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid alpha-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid â-glucosidase ...
Amaral, O., Desnick, R.J., Grace, M.E., Marcão, A., Sá Miranda, M.   +4 more
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Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative [PDF]

, 2019
© 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.Background: Gaucher disease (GD) presents with a range of signs and symptoms.
Belmatoug , N, Bembi , B, Bright, J, Deodato, F, Di Rocco, M, Goker-Alpan, O, Hughes, DA, Kuter, David, Lukina, EA, Machaczka, M, Mehta, Atul, Mengel, E, Nagral, A, Nakamura, K, Narita, A, Oliveri , B, Pastores, G, Pérez-López, J, Ramaswami, U, Salek, Mir-Saeed Shayegan, Schwartz, IV, Szer, J, Vom Dahl, S, Weinreb, NJ, Zimran, A   +24 more
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Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source

An Unusual Presentation of Gaucher’s Disease: Aortic Valve Fibrosis in a Patient Homozygous for a Rare G377S Mutation [PDF]

, 2010
Gaucher’s disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations ...
Biljana Jelić Puškarić, Branimir Jakšić, Ika Kardum-Skelin, Radovan Vrhovac, Tomislav Letilović, Zinaida Perić   +5 more
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Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non‐inferiority sequential trial emulation

Journal of Internal Medicine, EarlyView.
Abstract Objective To compare the efficacy and safety of extended interval (Q3–4W) enzyme replacement therapy (ERT) versus standard biweekly (Q2W) ERT in clinically stable type 1 Gaucher disease (GD) patients. Methods We emulated a target trial with a sequential trial design, using data from the French Gaucher Disease Registry.
Maxime Beydon, Jérôme Stirnemann, Karima Yousfi, Samira Zebiche, Dalil Hamroun, Anaïs Brassier, Samia Pichard, Laure Swiader, Thierry Billette de Villemeur, Bénédicte Héron, Florence Dalbies, Bérengère Cador, Anne‐Sophie Guemann, Francis Gaches, Bénédicte Hivert, Vanessa Leguy‐Seguin, Agathe Masseau, Yves‐Marie Pers, Magali Pettazzoni, Soumeya Bekri, Catherine Caillaud, Edouard Le Guillou, Marie Szymanowski, Leonardo Astudillo, Wladimir Mauhin, Yann Nadjar, Christine Serratrice, Marc G. Berger, Fabrice Camou, Nadia Belmatoug, Yann Nguyen, the French Evaluation of Gaucher Disease Treatment Committee   +31 more
wiley   +1 more source

Coenzyme Q10 partially restores pathological alterations in a macrophage model of Gaucher disease [PDF]

, 2017
Background Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids glucosylceramide ...
Cotán, David, Lavera, Isabel de, Luzón-Hidalgo, Raquel, Mata, Mario de la, Oropesa-Ávila, Manuel, Suárez-Rivero, Juan M., Sánchez-Alcázar, José A., Tiscornia, Gustavo, Villanueva-Paz, Marina, Álvarez-Córdoba, Mónica   +9 more
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Platelet Levels Associated With Bleeding Risk for Dental Interventions: A Systematic Review

Oral Diseases, EarlyView.
ABSTRACT Objectives To evaluate evidence in relation to postoperative bleeding in humans aged ≥ 16 with preoperative platelet counts < 50,000/μL, compared to those above, undergoing dental interventions. Methods Quantitative synthesis without meta‐analysis was conducted through an electronic search conducted on Ovid MEDLINE and Embase from 1946 to ...
Guang Xu David Lim, Fatima Al Sarraf, Hana Cho, Navdeep Kumar   +3 more
wiley   +1 more source

The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series. [PDF]

, 2018
We report the cognitive features and progression of Parkinson's disease (PD) in five patients with concurrent Gaucher disease. The patients presented at an earlier age than patients with sporadic PD, as previously noted by others; but in contrast to many
Barker, Roger A, Collins, Lucy M, Cox, Timothy M, Deegan, Patrick, Morris, Elizabeth, Williams-Gray, Caroline H   +5 more
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