Results 131 to 140 of about 2,712,368 (347)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Karyotype, evolution and phylogenetic reconstruction in Micronycterinae bats with implications for the ancestral karyotype of Phyllostomidae

BMC Evolutionary Biology, 2019
Background The Micronycterinae form a subfamily of leaf-nosed bats (Phyllostomidae) that contains the genera Lampronycteris Sanborn, 1949, and Micronycteris Gray, 1866 (stricto sensu), and is characterized by marked karyotypic variability and ...
T. C. M. Benathar, C. Y. Nagamachi, L. R. R. Rodrigues, P. C. M. O’Brien, M. A. Ferguson-Smith, F. Yang, J. C. Pieczarka   +6 more
doaj   +1 more source

The early evolutionary history of neo-sex chromosomes in Neotropical grasshoppers, Boliviacris noroestensis (Orthoptera: Acrididae: Melanoplinae) [PDF]

, 2014
Neo-sex chromosomes are an important component of chromosome variation in Orthoptera, particularly South American Melanoplinae species, which have proven to be outstanding experimental model system to study the mechanism of sex chromosome evolution in ...
Castillo, Elio Rodrigo Daniel, Marti, Dardo Andrea, Taffarel, Alberto   +2 more
core   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

A novel three-colour fluorescence in situ hybridization approach for the detection of t(7;12)(q36;p13) in acute myeloid leukaemia reveals new cryptic three way translocation t(7;12;16) [PDF]

, 2013
© 2013 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).The t(7;12)(q36;p13 ...
Abdulbasit Naiel, Andreasson, Beverloo, Cho, Elena Fleischman, Grigory Tsaur, Hollington, Jochen Harbott, Michael Vetter, Olga Plekhanova, Olga Sokova, Raimondi, Sabrina Tosi, Wildenhain, Wlodarska   +14 more
core   +2 more sources

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Cytogenetic data on Ancistrus sp. (Siluriformes, Loricariidae) of the Paraguay River basin (MS) sheds light on intrageneric karyotype diversification

Comparative Cytogenetics, 2016
Ancistrus Kner, 1854 is a diverse catfish genus, currently comprising 66 valid species, but karyotype data were recorded for 33 species, although only ten have their taxonomic status defined.
Ana Camila Prizon, Luciana Andreia Borin-Carvalho, Daniel Pacheco Bruschi, Marcos Otávio Ribeiro, Ligia Magrinelli Barbosa, Greicy Ellen de Brito Ferreira, Andréa Cius, Claudio Henrique Zawadzki, Ana Luiza de Brito Portela-Castro   +8 more
doaj   +3 more sources

Unlocking the potential of anti-CD33 therapy in adult and childhood acute myeloid leukaemia [PDF]

, 2017
Acute Myeloid Leukaemia (AML) develops when there is a block in differentiation and uncontrolled proliferation of myeloid precursors, resulting in bone marrow failure.
Gibson, Brenda E.S., Harrison, Christine J., Keeshan, Karen, Laing, Alison A.   +3 more
core   +1 more source

Repeat-based holocentromeres influence genome architecture and karyotype evolution

Cell, 2022
P. Hofstatter, Gokilavani Thangavel, Thomas M. Lux, P. Neumann, Tihana Vondrak, P. Novák, Meng Zhang, L. Costa, M. Castellani, A. Scott, Helena Toegelová, Joerg Fuchs, Yennifer Mata-Sucre, Y. Dias, André L. L. Vanzela, B. Huettel, C. Almeida, H. Šimková, G. Souza, A. Pedrosa‐Harand, J. Macas, K. Mayer, A. Houben, A. Marques   +23 more
semanticscholar   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source