Zobrazeno 1 - 10
of 10
pro vyhledávání: '"P H, Birch"'
Autor:
Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wid
Externí odkaz:
https://doaj.org/article/6d3ee0c27468471986227a368547920f
Autor:
Paulina M Wojnarowicz, Kathleen Klein Oros, Michael C J Quinn, Suzanna L Arcand, Karen Gambaro, Jason Madore, Ashley H Birch, Manon de Ladurantaye, Kurosh Rahimi, Diane M Provencher, Anne-Marie Mes-Masson, Celia M T Greenwood, Patricia N Tonin
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e45484 (2012)
High-grade ovarian serous carcinomas (HGSC) are characterized by TP53 mutations and non-random patterns of chromosomal anomalies, where the nature of the TP53 mutation may correlate with clinical outcome. However, the frequency of common somatic geno
Externí odkaz:
https://doaj.org/article/9467faaf430c4f4db00a32587a331be2
Autor:
Ashley H Birch, Suzanna L Arcand, Kathleen K Oros, Kurosh Rahimi, A Kevin Watters, Diane Provencher, Celia M Greenwood, Anne-Marie Mes-Masson, Patricia N Tonin
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e28250 (2011)
Ovarian carcinomas exhibit extensive heterogeneity, and their etiology remains unknown. Histological and genetic evidence has led to the proposal that low grade ovarian serous carcinomas (LGOSC) have a different etiology than high grade carcinomas (H
Externí odkaz:
https://doaj.org/article/df6687adbb2f43e285dec01bbf8c89c9
Autor:
P H, Birch
Publikováno v:
Clinical genetics. 87(3)
In-person genetic counselling (GC) is the model typically used to provide patients with information regarding their genetic testing options. Current and emerging demand for genetic testing may overburden the health care system and exceed the availabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8c81ea16317bb4765655ec445c75109e
https://pubmed.ncbi.nlm.nih.gov/24828354
https://pubmed.ncbi.nlm.nih.gov/24828354
Autor:
A E, Lin, P H, Birch, B R, Korf, R, Tenconi, M, Niimura, M, Poyhonen, K, Armfield Uhas, M, Sigorini, R, Virdis, C, Romano, E, Bonioli, P, Wolkenstein, E K, Pivnick, M, Lawrence, J M, Friedman
Publikováno v:
American journal of medical genetics. 95(2)
Although it is well recognized that a peripheral vasculopathy may occur in patients with neurofibromatosis 1 (NF1), it is unclear whether cardiovascular abnormalities are more common. We reviewed the frequency of cardiovascular abnormalities, in part
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ebbbbbc330fef89e339e453f12332e64
https://pubmed.ncbi.nlm.nih.gov/11078559
https://pubmed.ncbi.nlm.nih.gov/11078559
Autor:
D A, Stevenson, P H, Birch, J M, Friedman, D H, Viskochil, P, Balestrazzi, S, Boni, A, Buske, B R, Korf, M, Niimura, E K, Pivnick, E K, Schorry, M P, Short, R, Tenconi, J H, Tonsgard, J C, Carey
Publikováno v:
American journal of medical genetics. 84(5)
Five percent of individuals with neurofibromatosis type 1 (NF1) present with congenital long bone pseudarthrosis (PA). In large series, 50-80% of patients with congenital long bone PA also have NF1. Very little information exists on the natural histo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3bd50bbdab402cdc26864c0302147e5f
https://pubmed.ncbi.nlm.nih.gov/10360395
https://pubmed.ncbi.nlm.nih.gov/10360395
Autor:
J M, Friedman, P H, Birch
Publikováno v:
American journal of medical genetics. 70(2)
Type 1 Neurofibromatosis, NF1, is a common genetic disorder with variable clinical manifestations. Although NF1 often is only of cosmetic concern, serious and even lethal complications may occur. It is not possible to predict which symptoms will deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::261b46451e2e81ee009c11abe823f226
https://pubmed.ncbi.nlm.nih.gov/9128932
https://pubmed.ncbi.nlm.nih.gov/9128932
Publikováno v:
Neurology. 52:1517-1517
To the Editor: Tonsgard et al.1 performed CT imaging in 91 adult (≥16 years) NF1 patients; paraspinal neurofibromas occurred in 18.7% of patients in the chest region and in 25.3% of patients in the abdominal or pelvic region. The majority of patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::410f2a5267f45f76e99138893157737b
https://doi.org/10.1212/wnl.52.7.1517-d
https://doi.org/10.1212/wnl.52.7.1517-d
Autor:
Reynardson, H. Birch
Publikováno v:
The RUSI Journal; May 1924, Vol. 69 Issue: 474 p306-315, 10p
Autor:
REYNARDSON, H. BIRCH
Publikováno v:
African Affairs; July 1937, Vol. 36 Issue: 144 p255-255, 1p