نتایج جستجو برای: de lange syndrome

تعداد نتایج: 2119379  

2014
Isabelle Souza de Mélo Silva Raíssa Fernanda Evangelista Pires dos Santo Naélia Monique Moreira Brito Silva Andressa Leticia Lopes da Silva Ingridy Viana Lucena Andriele Mendonça Barbosa Klebson Silva Santos Thiane de Vasconcellos Costa Melo Genilson Sarmento Lins Júnior Francine Ferreira Padilha Patricia de Albuquerque Sarmento Maria Lysete de Assis Bastos

Study of the biological potential of in vitro extracts for Zeyheria tuberculosa (Bignoniaceae) Isabelle Souza de Mélo Silva, Raíssa Fernanda Evangelista Pires dos Santo, Naélia Monique Moreira Brito Silva, Andressa Leticia Lopes da Silva, Ingridy Viana Lucena, Andriele Mendonça Barbosa, Klebson Silva Santos, Thiane de Vasconcellos Costa Melo, Genilson Sarmento Lins Júnior, Francine Ferreira Pad...

Journal: :European Archives of Medical Research 2020

Journal: :Zootaxa 2015
Robert W Sites

The saucer bug subspecies Pelocoris femoratus balius La Rivers was described from east-central Florida and differs from the nominate subspecies by pronounced dark spotting on the fore femora, head, and pronotum. This subspecies is much less commonly encountered than is P. f. femoratus (Palisot de Beauvois), which occurs throughout Florida. Although both subspecies occur in the area, uncertainty...

Journal: :Human mutation 2015
María Concepción Gil-Rodríguez Matthew A Deardorff Morad Ansari Christopher A Tan Ilaria Parenti Carolina Baquero-Montoya Lilian B Ousager Beatriz Puisac María Hernández-Marcos María Esperanza Teresa-Rodrigo Iñigo Marcos-Alcalde Jan-Jaap Wesselink Silvia Lusa-Bernal Emilia K Bijlsma Diana Braunholz Inés Bueno-Martinez Dinah Clark Nicola S Cooper Cynthia J Curry Richard Fisher Alan Fryer Jaya Ganesh Cristina Gervasini Gabriele Gillessen-Kaesbach Yiran Guo Hakon Hakonarson Robert J Hopkin Maninder Kaur Brendan J Keating María Kibaek Esther Kinning Tjitske Kleefstra Antonie D Kline Ekaterina Kuchinskaya Lidia Larizza Yun R Li Xuanzhu Liu Milena Mariani Jonathan D Picker Ángeles Pié Jelena Pozojevic Ethel Queralt Julie Richer Elizabeth Roeder Anubha Sinha Richard H Scott Joyce So Katherine A Wusik Louise Wilson Jianguo Zhang Paulino Gómez-Puertas César H Casale Lena Ström Angelo Selicorni Feliciano J Ramos Laird G Jackson Ian D Krantz Soma Das Raoul C M Hennekam Frank J Kaiser David R FitzPatrick Juan Pié

Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features ...

Journal: :American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2007

Journal: :Japanese Journal of Oral & Maxillofacial Surgery 1991

Journal: :Developmental Medicine & Child Neurology 2016

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