Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ina E. Amarillo"'
Autor:
Ashley U. Amukamara, Ina E. Amarillo
Publikováno v:
Reproductive Medicine, Vol 3, Iss 2, Pp 160-188 (2022)
Copy number variations (CNVs) have been implicated in various conditions of differences of sexual development (DSD). Generally, larger genomic aberrations are more often considered disease-causing or clinically relevant, but over time, smaller CNVs h
Externí odkaz:
https://doaj.org/article/96f9c8b652ba41b2b6ab22d70533dce7
Autor:
Jorge L. Granadillo, Stacy Snyder, Patrick A. Dillon, Louis P. Dehner, David B. Wilson, Frederick S. Huang, Hui fang Zhou, Ina E Amarillo, Mai He, Christopher J. O’Conor
Publikováno v:
Fetal and Pediatric Pathology. 41:682-688
BACKGROUND There is strong evidence of a genetic contribution to Wilms tumor, such as WT1 gene variation or epigenetic changes at chromosome locus 11p15. A previous genome wide association study (GWAS) of Wilms tumor identified other significant asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9de0d19b1bcca84b857c91ddbebf700
https://doi.org/10.1080/15513815.2021.1921892
https://doi.org/10.1080/15513815.2021.1921892
Publikováno v:
American Journal of Medical Genetics Part A. 185:894-900
Neuroligin 4 X-linked (NLGN4X) is an X-linked postsynaptic scaffolding protein, with functional role in excitatory synapsis development and maintenance, that has been associated with neuropsychiatric disorders such as intellectual disability, autism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42f526e7935196e1981f0634400a1269
https://doi.org/10.1002/ajmg.a.62025
https://doi.org/10.1002/ajmg.a.62025
Autor:
Ina E Amarillo, J. Graham Theisen
Publikováno v:
The Journal of Applied Laboratory Medicine. 6:142-154
Background Gender expansive and transgender (GET) healthcare extends beyond gender-affirming therapies, reaching every medical specialty and subspecialty. As the number of GET patients seeking health services has increased, so has the need for standa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f570959fa26a0bd4d809fb0dd6976684
https://doi.org/10.1093/jalm/jfaa165
https://doi.org/10.1093/jalm/jfaa165
Autor:
Momchil Nikolov, Lilian Antunes, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett, Ina E Amarillo, Brooke Sadler, Gabe Haller
Publikováno v:
Journal of Medical Genetics. 57:851-857
IntroductionCongenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::223af06e00565c33b1d788979dcd9b28
https://doi.org/10.1136/jmedgenet-2020-106842
https://doi.org/10.1136/jmedgenet-2020-106842
Autor:
Marwan Shinawi, Alejandro F. Siller, Katherine Semenkovich, Louis P. Dehner, Alex Shimony, Ana Maria Arbelaez, Ina E Amarillo
Publikováno v:
JCRPE, Vol 11, Iss 1, Pp 88-93 (2019)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
We report a detailed phenotypic, cytogenetic and molecular characterization of a patient prenatally diagnosed with Turner syndrome (TS). In addition to having typical TS clinical characteristics including webbed neck, high arched palate and coarctati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2707cb8712b3cafe029d39a0e9076b88
https://doaj.org/article/75ad818723b24b6eae00aba275936ce9
https://doaj.org/article/75ad818723b24b6eae00aba275936ce9
Autor:
Carol Wise, Darren K. Johnson, Lilian Antunes, Cathleen L. Raggio, Todd E. Druley, Conner Jenkins, Mark A. Seeley, R. Spencer Tong, Nephi A. Walton, Nancy H. Miller, Matthew T. Oetjens, Jose A. Morcuende, Xavier Bledsoe, Christina A. Gurnett, Gabe Haller, Brooke Sadler, Ina E Amarillo, Matthew B. Dobbs, Yared H. Kidane, Philip F. Giampietro, Troy Jenkins
Publikováno v:
Journal of Medical Genetics. 56:427-433
IntroductionAdolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. CNVs play an important role in congenital scoliosis, but their role in idiopathic scoliosis has been largely unexp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30fadeac2be52dbf977b9c38bae98fc8
https://doi.org/10.1136/jmedgenet-2018-105877
https://doi.org/10.1136/jmedgenet-2018-105877
Publikováno v:
Bone
Microdeletions within 1q24 have been associated with growth deficiency, varying intellectual disability, and skeletal abnormalities. The candidate locus responsible for the various phenotypic features of this syndrome has previously been predicted to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79861f8a1a084d35b2e4ebb9bc0048e3
https://pubmed.ncbi.nlm.nih.gov/33141070
https://pubmed.ncbi.nlm.nih.gov/33141070
Autor:
Julie Fleischer, Yoshiko Mito, Marwan Shinawi, Stephanie Q. Zhang, Ina E Amarillo, Hussam Al-Kateb
Publikováno v:
European Journal of Medical Genetics. 63:103736
Deletions and duplications involving the CNTN4 gene, which encodes for the contactin 4 protein, have been reported in children with autism spectrum disorder (ASD) and other neurodevelopmental phenotypes. In this study, we performed clinical and genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c509c5e7a404d1bf57ffc7a111ded450
https://doi.org/10.1016/j.ejmg.2019.103736
https://doi.org/10.1016/j.ejmg.2019.103736
Publikováno v:
Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation. 16(3)
Graft-versus-host disease after solid-organ transplant is exceedingly rare. Although the precise pathogenetic mechanisms are unknown, a progressive increase in donor chimerism is a requirement for its development. The incidence of mixed donor chimeri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9de02119bf1d7d26fd654c3d91ae8a2e
https://pubmed.ncbi.nlm.nih.gov/28661312
https://pubmed.ncbi.nlm.nih.gov/28661312