Results 261 to 270 of about 199,391 (364)

Analysis of chromosome pairing in two desynaptics of annual Chrysanthemum.

, 1980
Panuganti N. Rao, N. Kameswara Rao
openalex   +2 more sources

Chromosomal Alterations in Paired Gastric Adenomas and Carcinomas [PDF]

, 2001
Yoon Hee Kim, Nam‐Gyun Kim, Jong Gun Lim, Chanil Park, Hoguen Kim   +4 more
openalex   +1 more source

Natural History of NAA15‐Related Neurodevelopmental Disorder Through Adolescence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The NatA N‐terminal acetyltransferase complex is composed of the NAA10 catalytic subunit and the auxiliary subunits NAA15 and HYPK. While those with variants in the enzymatic subunit develop Ogden Syndrome, individuals with variants in the NAA15 coding region develop NAA15‐related neurodevelopmental syndrome, which presents with a wide array ...
Rikhil Makwana, Carolina Christ, Rahi Patel, Elaine Marchi, Randie Harpell, Gholson J. Lyon   +5 more
wiley   +1 more source

Genomic insights into evolution of parthenogenesis and triploidy in the flowerpot snake. [PDF]

Sci Adv
Lv Y, Wu W, Ren JL, Fujita MK, Song M, Wang Z, Jiang K, Jiang D, Yan C, Peng C, Peng Z, Li JT.   +11 more
europepmc   +1 more source

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Meiotic dynamics in a unique Australian marsupial provide new insights into the evolution of neo-sex chromosomes in the early stages of differentiation. [PDF]

Front Cell Dev Biol
Marín-Gual L, Hogg CJ, Chang JK, Pask AJ, Renfree MB, Waters PD, Ruiz-Herrera A.   +6 more
europepmc   +1 more source

Reduced rDNA copy number does not affect "competitive" chromosome pairing in XYY males of Drosophila melanogaster. [PDF]

G3 (Bethesda), 2014
Maggert KA.
europepmc   +1 more source

Chromosomal translocations involving paired box transcription factors in human cancer

, 1997
Frederic G. Barr
openalex   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Synaptonemal complex extension from clustered telomeres mediates full-length chromosome pairing in Schmidtea mediterranea. [PDF]

Proc Natl Acad Sci U S A, 2014
Xiang Y, Miller DE, Ross EJ, Sánchez Alvarado A, Hawley RS.   +4 more
europepmc   +1 more source