Results 31 to 40 of about 96,085 (345)

Spinal Cord Involvement in Pediatric-Onset Metabolic Disorders With Mendelian and Mitochondrial Inheritance

Frontiers in Pediatrics, 2021
Previous reviews have described the features of brain involvement in pediatric-onset metabolic disorders with Mendelian and mitochondrial inheritance, but only a few have focused on spinal cord abnormalities.
Brahim Tabarki, Wejdan Hakami, Nader Alkhuraish, Kalthoum Tlili-Graies, Majid Alfadhel, Majid Alfadhel   +5 more
doaj   +1 more source

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer   +30 more
wiley   +1 more source

Determining when an algebra is an evolution algebra [PDF]

Mathematics 2020, 8, 1349, 2021
Evolution algebras are non-associative algebras that describe non-Mendelian hereditary processes and have connections with many other areas. In this paper we obtain necessary and sufficient conditions for a given algebra $A$ to be an evolution algebra. We prove that the problem is equivalent to the so-called $SDC$ $problem$, that is, the $simultaneous$
arxiv   +1 more source

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023
Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin   +9 more
wiley   +1 more source

Mendel paved the path toward understanding genetic diseases

Egyptian Journal of Medical Human Genetics, 2022
Background July 20th, 2022, marks the 200th anniversary of the “Father of Genetics,” Gregor Mendel’s birth. His experiments with pea plants established the fundamental principles of genetic inheritance.
Sreejon Sundar Das
doaj   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

InDelGT: An integrated pipeline for extracting indel genotypes for genetic mapping in a hybrid population using next‐generation sequencing data

Applications in Plant Sciences, Volume 10, Issue 6, November-December 2022., 2022
Abstract Premise Although several software packages are available for genotyping insertion/deletion (indel) polymorphisms in genomes using next‐generation sequencing data, simultaneously calling indel genotypes across many individuals for use in genetic mapping remains challenging. Methods and Results We present an integrated pipeline, InDelGT, for the
Zhiliang Pan, Jinpeng Zhang, Shengjun Bai, Zhiting Li, Chunfa Tong   +4 more
wiley   +1 more source

A companion to the preclinical common data elements for rodent genetic epilepsy models. A report of the TASK3‐WG1B: Paediatric and genetic models working group of the ILAE/AES joint translational TASK force

Epilepsia Open, EarlyView., 2022
Abstract Rodent models of epilepsy remain the cornerstone of research into the mechanisms underlying genetic epilepsy. Reproducibility of experiments using these rodent models, occurring across a diversity of laboratories and commercial vendors, remains an issue impacting the cost‐effectiveness and scientific rigor of the studies performed.
Massimo Mantegazza, Stėphane Auvin, Melissa Barker‐Haliski, Anna‐Maria Katsarou, Hana Kubova, Aristea S. Galanopoulou, Bridgette Semple, Christopher A. Reid   +7 more
wiley   +1 more source

Coat color inheritance in American mink

BMC Genomics, 2023
Background Understanding the genetic mechanisms underlying coat color inheritance has always been intriguing irrespective of the animal species including American mink (Neogale vison).
Persia Carol Thapa, Duy Ngoc Do, Ghader Manafiazar, Younes Miar   +3 more
doaj   +1 more source

Stability of Transgene Inheritance in Progeny of Field-Grown Pear Trees over a 7-Year Period

Plants, 2022
Breeding woody plants is a very time-consuming process, and genetic engineering tools have been used to shorten the juvenile phase. In addition, transgenic trees for commercial cultivation can also be used in classical breeding, but the segregation of ...
Vadim Lebedev
doaj   +1 more source