Zobrazeno 1 - 10
of 398
pro vyhledávání: '"A S, Lachman"'
Autor:
Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Anna Hammarsjö, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Gen Nishimura, Giedre Grigelioniene
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
FOXC1 is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in FOXC1 are associated with anterior segment dysgenesis and Axenfeld-Rieger syndrome (ARS, #602482), an
Externí odkaz:
https://doaj.org/article/4c781b29b14b4f2ca44d5bf090231ae4
Autor:
Maya Barad, Fabiana Csukasi, Michaela Bosakova, Jorge H. Martin, Wenjuan Zhang, S. Paige Taylor, Ralph S. Lachman, Jennifer Zieba, Michael Bamshad, Deborah Nickerson, Jessica X. Chong, Daniel H. Cohn, Pavel Krejci, Deborah Krakow, Ivan Duran
Publikováno v:
EBioMedicine, Vol 62, Iss , Pp 103075- (2020)
Background: Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions to control differentiation,
Externí odkaz:
https://doaj.org/article/92542388a0ba41a0b688700973236fab
Publikováno v:
American Journal of Medical Genetics Part A. 185:2776-2781
RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old male
Autor:
Xiao Wang, Hannah K Ligon, Yolande Pengetnze, Barry S. Lachman, Sarah E. Messiah, Weiwei Ouyang, Luyu Xie, Donna Persaud
Publikováno v:
The American journal of managed care. 27(5)
Objectives To develop and prospectively validate a novel model incorporating claims and community-level socioeconomic data to predict preterm birth at scale among pregnant Medicaid women with no history of preterm birth (PTB). Study design A longitud
Autor:
Ralph S. Lachman, Pavel Krejci, Wenjuan Zhang, S. Paige Taylor, Maya Barad, Deborah Krakow, Deborah A. Nickerson, Jennifer Zieba, Ivan Duran, Michael J. Bamshad, Michaela Bosakova, Jessica X. Chong, Daniel H. Cohn, Fabiana Csukasi, Jorge H. Martin
Publikováno v:
EBioMedicine, Vol 62, Iss, Pp 103075-(2020)
EBioMedicine
EBioMedicine
Background Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions to control differentiation,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d989b370d4b5d0b2bd3305873b164b3
https://escholarship.org/uc/item/61z468bp
https://escholarship.org/uc/item/61z468bp
Autor:
N Badiner, S P Taylor, Daniel H. Cohn, Michael J. Bamshad, Ralph S. Lachman, Deborah Krakow, Deborah A. Nickerson, K Forlenza
Publikováno v:
Clinical Genetics. 92:158-165
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I-IV, with type I first delineated by Saldino and Noonan in 1972.
Autor:
Lillian M. Lai, Ralph S. Lachman
Publikováno v:
Pediatric Radiology. 46:1713-1720
Although mucolipidosis type II has similar metabolic abnormalities to those found in all the mucopolysaccharidoses and mucolipidoses, there are distinctive diagnostic radiographic changes of mucolipidosis II in the perinatal/newborn/infant period.To
Autor:
Carlos Bustamante, María C. Ávila-Arcos, Felice-Alessio Bava, Garry P. Nolan, Xuhuai Ji, Lam Hyk, Emery Smith, Chen Sc, Sanchita Bhattacharya, Alexandra Sockell, Atul J. Butte, Ralph S. Lachman, Matthew J. Kan, Narges Bani Asadi, Li J
Publikováno v:
Genome research, vol 28, iss 4
Over a decade ago, the Atacama humanoid skeleton (Ata) was discovered in the Atacama region of Chile. The Ata specimen carried a strange phenotype—6-in stature, fewer than expected ribs, elongated cranium, and accelerated bone age—leading to spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2206a2763afee9c824779b928c4f7cac
https://escholarship.org/uc/item/7cc8133r
https://escholarship.org/uc/item/7cc8133r
Autor:
Queenie K-G, Tan, Heidi, Cope, Rebecca C, Spillmann, Nicholas, Stong, Yong-Hui, Jiang, Marie T, McDonald, Jennifer A, Rothman, Megan W, Butler, Donald P, Frush, Ralph S, Lachman, Brendan, Lee, Carlos A, Bacino, Melanie J, Bonner, Chad M, McCall, Avani A, Pendse, Nicole, Walley, Vandana, Shashi, Joy D, Cogan
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman–Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively
Publikováno v:
Pediatric Radiology. 45:1066-1071
Shwachman-Bodian-Diamond syndrome (OMIM 260400) was identified in 1964 by pediatricians Harry Shwachman, a leader in cystic fibrosis, and Louis K. Diamond, a hematologist, along with pediatrician and morbid anatomist Martin Bodian. Initially the synd