Results 211 to 220 of about 1,606,043 (303)

Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India. [PDF]

J Pharm Bioallied Sci
Jha RK, Kaple M, Ambad RS, Dhok A, Anjankar A.   +4 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

8,888 Newborns Over One Year: Evaluation of a Universal Neonatal Hearing Screening Program

International Archives of Otorhinolaryngology
Laura Franco Chiriboga, Karolina Pessote Sideri, Jonathan Grassi, Elaine Soares Monteiro Pinto, Luis Miguel Chiriboga Arteta   +4 more
doaj   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

[Neonatal Screening for Congenital Adrenal Hyperplasia in Russia: A Decade of Outcomes (2015-2025) and Lessons from Clinical Cases]. [PDF]

Probl Endokrinol (Mosk)
Vorontsova MV, Chugunov IS, Kopylova IV, Shapovalova AE, Gorbacheva AM, Peterkova VA, Mokrysheva NG.   +6 more
europepmc   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

The Neonatal Screening for Sickle Cell Disease, Thalassemia, and G6PD Deficiency in Central India. [PDF]

J Pharm Bioallied Sci
Jha RK, Kaple M, Ambad RS, Dhok A, Anjankar A.   +4 more
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Rare Variants of the SMN1 Gene Detected during Neonatal Screening. [PDF]

Genes (Basel)
Akhkiamova M, Polyakov A, Marakhonov A, Voronin S, Saifullina E, Vafina Z, Michalchuk K, Braslavskaya S, Chukhrova A, Ryadninskaya N, Kutsev S, Shchagina O.   +11 more
europepmc   +1 more source

Methacrylated Gelatin and Graphene Oxide Hybrid Hydrogels Composed‐Bioinks for 3D Tissue Engineering

Advanced NanoBiomed Research, EarlyView.
Bioinks made from hydrogels, such as methacrylated gelatin (GelMA), serve as the base material for bioprinted tissues, offering versatility and biocompatibility for a range of applications. Additional components however are still needed to improve functionality and mechanical stability of hydrogels. One of these components is graphene oxide (GO), added
Wanessa S. Mota, Erika S. Lisboa, Victoria L. S. dos Santos, Carine Serafim, Maria L. F. Bezerra, Thais F. R. Alves, Marco V. Chaud, Frederico S. Martins, Juliana C. Cardoso, Eliana B. Souto, Patrícia Severino   +10 more
wiley   +1 more source