Results 111 to 120 of about 233,721 (401)

Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder [PDF]

, 2016
From 106 human blastocyts donate for research after in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) for monogenetic disorder, 3 human embryonic stem cells (hESCs) HVR1, HVR2 and HVR3 were successfully derived.
Aguilera, Yolanda, Antiñolo Gil, Guillermo, Hmadcha, Abdelkrim, Lozano Arana, María Dolores, Mellado, Nuria, Moya, Cristina, Palacios Calvo, José, Soria Escoms, Bernat, Sánchez Palazón, Luis, Sánchez, Javier   +9 more
core   +2 more sources

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Small mammals of Chapada dos Veadeiros National Park (Cerrado of Central Brazil): ecologic, karyologic, and taxonomic considerations

Brazilian Journal of Biology
This work is based on a survey of small mammals carried out in the Chapada dos Veadeiros National Park, a natural reserve located in the mountains of the Planalto Central Goiano in the Cerrado of Central Brazil.
C. R. Bonvicino, B. Lemos, M. Weksler
doaj   +1 more source

Results of Turner Syndrome Treatment with Recombinant Human Growth Hormone in Albania [PDF]

International Journal of Biomedicine
Background: There is no doubt that the use of rhGH in patients with TS brings satisfactory results regarding the improvement of height growth, realizing the improvement of the final adult height.
Agim Gjikopulli, Sonila Tomori, Donjeta Bali, Paskal Cullufi, Laurant Kollcaku, Mirela Tabaku, Anila Babameto   +6 more
doaj   +1 more source

Karyotypes of two European species of the genus Lymnaea with disputable taxonomic status (Gastropoda: Pulmonata: Lymnaeidae) [PDF]

, 2002
Karyotypes of Lymnaea corvus and L. occulta are studied for the first time and compared to the original data on Ukrainian populations of L. palustris and L. stagnalis.
Garbar, А. V., Kornіushіn, А. V.
core  

Cytological features of penaut genome [PDF]

, 2017
The genus Arachis is composed of 82 species (Krapovickas and Gregory 1994; Valls and Simpson 2005; Valls et al 2013; Santana and Valls 2015) mainly distributed within a large region of South America, which extends from the eastern foothills of the Andes ...
Chalup, Laura María Isabel, Lavia, Graciela Inés, Ortiz, Alejandra Marcela, Robledo Dobladez, Germán Ariel, Samoluk, Sergio Sebastián, Seijo, José Guillermo, Silvestri, María Celeste   +6 more
core   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Хромосомні аномалії у чоловіків із різним ступенем порушення сперматогенезу

Regulatory Mechanisms in Biosystems, 2013
Проведено аналіз частот і типів хромосомних аномалій у 724 чоловіків із безпліддям. Аномалії каріотипу виявлено у 48 (6,6%) пацієнтів. Аномалії аутосом склали 67%, гоносом – 33%. Аномалії аутосом представлено структурними перебудовами.
L. Y. Pylyp, L. A. Spinenko, V. D. Zukin, N. M. Bilko   +3 more
doaj   +1 more source

TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome.

Blood, 2012
To assess the frequency of TP53 alterations and their correlation with other genetic changes and outcome in acute myeloid leukemia with complex karyotype (CK-AML), we performed integrative analysis using TP53 mutational screening and array-based genomic ...
F. Rücker, R. Schlenk, L. Bullinger, S. Kayser, V. Teleanu, Helena Kett, Marianne Habdank, Carla-Maria Kugler, K. Holzmann, V. Gaidzik, P. Paschka, G. Held, M. von Lilienfeld-Toal, M. Lübbert, S. Fröhling, T. Zenz, J. Krauter, B. Schlegelberger, A. Ganser, P. Lichter, K. Döhner, H. Döhner   +21 more
semanticscholar   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source