Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Monica J Basehore"'
Autor:
Jozef Gecz, Raman Kumar, Roger E Stevenson, Michael Field, Michael J Friez, Susan Sklower Brooks, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Charles E Schwartz
Publikováno v:
BMJ Open, Vol 6, Iss 4 (2016)
Background X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20–40 years ago. Next generation sequenc
Externí odkaz:
https://doaj.org/article/63e513f726c64e4db29d23d9f58c5f6e
Publikováno v:
Arthritis Care & Research. 66:328-333
Autor:
Bobby G. Ng, Jose E. Abdenur, Raymond Y. Wang, Tim Wood, Hudson H. Freeze, Jeffrey S. Rush, Michelle T. Lieu, Richard Chang, Madhuri Hegde, Monica J. Basehore
Publikováno v:
Molecular Genetics and Metabolism. 110:484-489
Congenital disorders of glycosylation are a group of metabolic disorders with an expansive and highly variable clinical presentation caused by abnormal glycosylation of proteins and lipids. Dolichol kinase (DOLK) catalyzes the final step in biosynthe
Publikováno v:
American Journal of Medical Genetics Part A. 161:1432-1435
A male child with clinical features consistent with EEC/EECUT plus syndrome(ectrodactyly, ectodermal dysplasia, clefting, urinary tract abnormalities and thymic abnormalities) including mild ectodermal abnormalities, ectrodactyly of hands and feet, c
Autor:
Charles E. Schwartz, Stephen McGee, Mark A. Corbett, Marie A. Shaw, Samantha Saxon, Michael Field, Raman Kumar, Lucy Murray, Cindy Skinner, Ying Yzu Yap, Courtney Sebold, Monica J. Basehore, Maria E. Craig, Roger E. Stevenson, Jozef Gecz, Barbara van Loon, Richard J. Simensen, Susan Sklower Brooks, Fatima Abidi, Patrick S. Tarpey, Matthias Bosshard, Michael J. Friez, Lesley C. Adès, Alison Gardner
Publikováno v:
BMJ Open
Background X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20–40 years ago. Next generation sequenc
Autor:
Jiarui Li, Louis Libbrecht, Tim Wood, J Decaestecker, Edwin Steenkiste, Monica J. Basehore, Jules G. Leroy, Laura Pollard, Michael J. Friez, Chris Verslype, Neena L. Champaigne, He-Ping Hu, Jennifer L. Goldstein, Marjan Huizing, Priya S. Kishnani, Alka Chaubey, Jo Van Dorpe, Roger E. Stevenson, Nansheng Chen
Publikováno v:
Mol Genet Metab
Sialuria, a rare inborn error of metabolism, was diagnosed in a healthy 12-year-old boy through whole exome sequencing. The patient had experienced mild delays of speech and motor development, as well as persistent hepatomegaly. Identification of the
Publikováno v:
Molecular Pathology in Clinical Practice ISBN: 9783319196732
Although the classic childhood phenotypes of many developmental disorders have been established for some time, only recently have the genetic etiologies of some of these disorders been identified. Understanding the genetic basis of these disorders al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3093f340176722b46b263c39b866a24f
https://doi.org/10.1007/978-3-319-19674-9_7
https://doi.org/10.1007/978-3-319-19674-9_7
Autor:
David A. Margolis, Michael Tschannen, Daniel Helbling, John M. Routes, Ulrich Broeckel, Marjorie J. Arca, Monica J Basehore, David P. Bick, Elizabeth A. Worthey, Aoy Tomita-Mitchell, Benedetta Bonacci, Alan N. Mayer, Grant Syverson, Jaime M Serpe, Trivikram Dasu, Regan Veith, David Dimmock, Brennan Decker, Martin J. Hessner, James T. Casper, Howard J. Jacob, James W. Verbsky
Publikováno v:
Genetics in Medicine. 13:255-262
Purpose: We report a male child who presented at 15 months with perianal abscesses and proctitis, progressing to transmural pancolitis with colocutaneous fistulae, consistent with a Crohn disease-like illness. The age and severity of the presentation
Autor:
Patrick Willems, Aimee Leanne Williams, Monica J. Basehore, Michael J. Friez, Amanda Lindy, Scott T. Dougan, Mumingjiang Munisha, Karin Writzl
Publikováno v:
American journal of medical genetics. Part A. 170(6)
Thanatophoric dysplasia is a type of short-limbed neonatal dwarfism that is usually lethal in the perinatal period. It is characterized by short limbs, a narrow, bell-shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodi
Autor:
Timothy D. Howard, Matcheri S. Keshavan, Monica J. Basehore, Vandana Shashi, Thomas R. Kwapil, Margaret N. Berry, E. Lewandowski
Publikováno v:
Clinical Genetics. 69:234-238
Chromosome 22q11.2 deletion syndrome (22q11DS) is a common microdeletion syndrome associated with a markedly elevated risk of schizophrenia in adulthood. Cognitive impairments such as a low IQ and deficits in attention and executive function are comm