Results 71 to 80 of about 14,861 (250)

A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Mosaic variegated aneuploidy (MVA) is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies, and most patients present with intrauterine growth delay, microcephaly, and a broad spectrum of congenital ...
Annalisa Frattini, Giovanni Micheloni, Antonio Musio, Marika Bini Antunes, José Barbot, Emília Costa, Patricia Seabra, Rossana Righi, Francesco Orsini, Giuseppe Montalbano, Francesco Acquati, Giovanni Porta, Francesco Pasquali, Roberto Valli   +13 more
wiley   +1 more source

Análise citogenética de bovinos da raça Pardo-Suíça

Boletim de Indústria Animal, 2010
Em 1985 o plantel de bovinos da raça Pardo-Suíça do Instituto de Zootecnia, da Secretaria da Agricultura e Abastecimento de São Paulo (SAA/SP), APTA, foi analisado citogeneticamente e verificado a presença de translocação Robertsoniana 1/29, anomalia está relacionada com a redução da fertilidade. Neste plantel foi detectado também quimerismo
Rita Maria Ladeira Pires, Cristina Corsi Dib, Keila Maria Roncato Duarte, Jackson Barros do Amaral, Mariana Santos de Miranda   +4 more
openaire   +3 more sources

Abstract Book for the 27th Congress of the European Hematology Association

, 2022
HemaSphere, Volume 6, Issue S3, Page 1-4130, June 2022.
wiley   +1 more source

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

Molecular Genetics &Genomic Medicine, Volume 12, Issue 6, June 2024.
Graphical abstract of a case with Spastic Paraplegia 11, including the family pedigree with the variants identified in the SPG11 gene and a representation of the patient's spliced transcripts according to transcriptome data. Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia,
Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta de Castro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón   +16 more
wiley   +1 more source

Plant reproduction research in Latin America: Toward sustainable agriculture in a changing environment

Plant-Environment Interactions, Volume 5, Issue 3, June 2024.
The sustainability of Latin American agriculture in the face of climate change may depend on advances on plant reproduction research performed by local groups. Abstract Food production and food security depend on the ability of crops to cope with anthropogenic climate change and successfully produce seed.
Arnaud Ronceret, Pablo Bolaños‐Villegas   +1 more
wiley   +1 more source

How diverse a monocentric chromosome can be? Repeatome and centromeric organization of Juncus effusus (Juncaceae)

The Plant Journal, Volume 118, Issue 6, Page 1832-1847, June 2024.
Significance Statement Recent studies have challenged the holocentric organization of Juncus centromeres, with several species now demonstrated to be monocentric. However, the annotation of all Juncus effusus centromeres revealed a distinctive centromeric organization, with eventually multiple CENH3 domains along the centromere associated with less ...
Yhanndra Dias, Yennifer Mata‐Sucre, Gokilavani Thangavel, Lucas Costa, Mariana Báez, Andreas Houben, André Marques, Andrea Pedrosa‐Harand   +7 more
wiley   +1 more source

The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics. [PDF]

, 2016
Familial nonmedullary thyroid cancer (NMTC) has not been clearly linked to causal germline variants, despite the large role that genetic factors play in risk. Recently, HABP2 G534E (rs7080536A) has been implicated as a causal variant in NMTC.
Bohórquez, Mabel E, Bolaños, Fernando, Carvajal-Carmona, Luis G, Donado, Jorge, Duque, Carlos S, Echeverry, Magdalena, Estrada, Ana P, Lott, Paul, Mateus, Gilbert, Sahasrabudhe, Ruta, Stultz, Jacob, Vélez, Alejandro, Williamson, John   +12 more
core   +1 more source

Estudios cromosómicos en seis especies mexicanas de comelináceas

Botan‪ical Sciences, 1990
Se determinaron los números cromosómicos (2n) y se elaboraron los cariotipos de Tradescantia crassifolia Cav. subsp. acaulis (Martens y Galeotti) D. Hunt, Gibasis shiedeana (Kunth) D. Hunt, Cymbispatha commelinoides (Shult.
Guadalupe Palomino-Hasbach, Balbina Vázquez-Benítez, Patricia Martínez-Almeraya, Pedro Mercado-Ruaro   +3 more
doaj   +1 more source

Clinical, cognitive, behavioral and communicative features of Smith-Magenis syndrome [PDF]

, 2011
TEMA: o objetivo deste estudo foi descrever os aspectos clínico, comportamental, cognitivo e comunicativo de indivíduos com o diagnóstico genético da Síndrome Smith-Magenis. PROCEDIMENTOS: participaram dois indivíduos do sexo masculino, de nove e 19 anos.
Abramides, Dagma Venturini Marques, Furlan, Renata Heloisa, GIACHETI, Célia Maria, Lamonica, Dionisia Aparecida Cusin, MORETTI-FERREIRA, Danilo, SILVA, Greyce Kelly da, VIEIRA, Gustavo Henrique   +6 more
core   +2 more sources

Genome relationships and LTR-retrotransposon diversity in three cultivated Capsicum L. (Solanaceae) species

BMC Genomics, 2020
Background Plant genomes are rich in repetitive sequences, and transposable elements (TEs) are the most accumulated of them. This mobile fraction can be distinguished as Class I (retrotransposons) and Class II (transposons).
Rafael de Assis, Viviane Yumi Baba, Leonardo Adabo Cintra, Leandro Simões Azeredo Gonçalves, Rosana Rodrigues, André Luís Laforga Vanzela   +5 more
doaj   +1 more source