Current best practice in the management of cystitis and pelvic pain

Autor: Jayne Louise Douglas-Moore, Jonathan Goddard

Publikováno v: Therapeutic Advances in Urology, Vol 10 (2018)

Bladder pain syndrome (BPS) is a difficult disorder to diagnose and subsequently manage despite having been recognized for more than 200 years according to references in medical literature. There are currently three widely accepted guidelines on BPS:

Externí odkaz: https://doaj.org/article/f7092cd800cb49d09001000bb799e799

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Autor: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, null Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

Publikováno v: Human Genetics and Genomics Advances
HGG Advances, Vol 3, Iss 1, Pp 100074-(2022)
Zhang, C, Jolly, A, Shayota, B J, Mazzeu, J F, Du, H, Dawood, M, Soper, P C, Ramalho de Lima, A, Ferreira, B M, Coban-Akdemir, Z, White, J, Shears, D, Thomson, F R, Wainwright, A, Wordsworth, P, Oldridge, M, Lester, T, Calder, A D, Dumic, K, Banka, S, Donnai, D, Jhangiani, S N, Potocki, L, Chung, W K, Mora, S, Northrup, H, Ashfaq, M, Rosenfeld, J A, Mason, K, Pollack, L C, McConkie-Rosell, A, Kelly, W, McDonald, M, Hauser, N S, Leahy, P, Powell, C M, Boy, R, Honjo, R S, Kok, F, Martelli, L R, Filho, V O, Genomics England Research Consortium, Muzny, D M, Gibbs, R A, Posey, J E, Liu, P, Lupski, J R & Sutton, V R 2022, ' Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability ', Human Genetics and Genomics Advances, vol. 3, no. 1, 100074 . https://doi.org/10.1016/j.xhgg.2021.100074

Summary Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e77b81a3eca2f20efcc27c10f904b73
https://pubmed.ncbi.nlm.nih.gov/35047859

The Summer of Lies : A Gripping Page-turner From NUMBER ONE RICHARD & JUDY Bestseller Louise Douglas

Autor: Louise Douglas

The novel from Number 1 bestselling Richard & Judy author Louise Douglas.As wild fires creep a devastating path towards the idyllic town of Morranez, a vulnerable girl goes missing. But was she taken - or was she escaping...The summer is the hottest

Il sentiero dei ricordi perduti

Autor: Louise Douglas

«La perfetta combinazione di mistero ed emozioni. Superbo.» Nella caldissima estate del 1995, Alice Lang si trova in vacanza alla periferia della vivace località turistica di Severn Sands. Ha affittato una roulotte e non ha avuto difficoltà a far

The Room in the Attic : The TOP 5 Bestselling Novel From Louise Douglas

Autor: Louise Douglas

THE #2 BESTSELLERDiscover the latest chilling, unputdownable novel, from the Richard and Judy bestseller.A child who does not know her name…In 1903 fishermen find a wrecked boat containing a woman, who has been badly beaten, and a young girl. An am