Results 121 to 130 of about 3,010,874 (320)

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]

, 2017
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda, Bernardo, Silvia, Catalano, Carlo, DE VITO, Corrado, Di Meglio, L, Giancotti, Antonella, Manganaro, Lucia, Marchionni, Enrica, Pizzuti, Antonio, Saldari, Matteo, Silvestri, E, Vinci, Valeria   +11 more
core   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Cytogenetic and comparative morphology of two allopatric populations of Astyanax altiparanae Garutti & Britski, 2000 (Teleostei: Characidae) from upper rio Paraná basin

Neotropical Ichthyology
The recently described fish species, Astyanax altiparanae (tetra) is common in the upper rio Paraná basin, and has been reported in the Iguaçu basin. However, its natural origin in the rio Iguaçu is questionable.
Manoela de S. Domingues, Marcelo R. Vicari, Vinícius Abilhoa, João P. Wamser, Marta M. Cestari, Luiz A. C. Bertollo, Mara C. de Almeida, Roberto F. Artoni   +7 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 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

Complex Evolutionary History of the Y Chromosome in Flies of the Drosophila obscura Species Group. [PDF]

, 2020
The Drosophila obscura species group shows dramatic variation in karyotype, including transitions among sex chromosomes. Members of the affinis and pseudoobscura subgroups contain a neo-X chromosome (a fusion of the X with an autosome), and ancestral Y ...
Bachtrog, Doris, Bracewell, Ryan
core  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Karyotype of Hynobius fucus Lai et Lue, 2008, a salamander endemic to Taiwan with comments in memory of June-Shian Lai, a pioneer in studies of mountainous salamanders (Urodela, Hynobiidae) [PDF]

Comparative Cytogenetics
The chromosome number of Hynobius fucus was found by Lai and Lue (2008) to be 2n = 58, displaying a karyomorph similar to those previously reported in stream-type salamanders from Taiwan.
Koji Iizuka, Hiroyuki Koishi, Nikolay A. Poyarkov, Yoshinori Takeuchi, Yu-Ten Ju   +4 more
doaj   +3 more sources

Comparative chromosome band mapping in primates byin situ suppression hybridization of band specific DNA microlibraries [PDF]

, 1991
A DNA-library established from microdissected bands 8q23 to 8q24.1 of normal human chromosomes 8 (Lüdecke et al., 1989) was used as a probe for chromosomal in situ suppression (CISS-) hybridization to metaphase chromosomes of man and primates including ...
A. Jauch, B. Dutrillaux, B. Horsthemke, C. Lengauer, C. Lengauer, D. Pinkel, D. Pinkel, H. J. Lüdecke, H.J. Lüdecke, J. Wienberg, J. Wienberg, J.J. Yunis, M. Klever, M. Small, P. Lichter, P.A. Lalley, R. Stanyon, R. Stanyon, R. Stanyon, S.J. O'Brien, T. Cremer   +20 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source