Search Results - "Smithson, Sarah"

Risk of Preterm Delivery in Very Advanced Maternal Age Parturients Utilizing In Vitro Fertilization by Newman, Rachel A, Naqvi, Mariam, Levian, Candace, Smithson, Sarah D, Esakoff, Tania

“…Among patients ≥45 years, the birth rate in the United States continues to increase. As fertility declines with age, this cohort often utilizes assisted…”
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Pituitary apoplexy associated with acute COVID-19 infection and pregnancy by Chan, Julie L., Gregory, Kimberly D., Smithson, Sarah S., Naqvi, Mariam, Mamelak, Adam N.

“…Purpose We report a case of a pregnant female presenting with pituitary apoplexy and simultaneous SARS-CoV-2 infection with a focus on management decisions…”
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Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation by Yost, Shawn, de Wolf, Bas, Hanks, Sandra, Zachariou, Anna, Marcozzi, Chiara, Clarke, Matthew, de Voer, Richarda M, Etemad, Banafsheh, Uijttewaal, Esther, Ramsay, Emma, Wylie, Harriet, Elliott, Anna, Picton, Susan, Smith, Audrey, Smithson, Sarah, Seal, Sheila, Ruark, Elise, Houge, Gunnar, Pines, Jonathon, Kops, Geert J P L, Rahman, Nazneen

“…Nazneen Rahman, Geert Kops and colleagues report the identification of biallelic loss-of-function mutations in TRIP13 in six individuals with Wilms tumor who…”
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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans by Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.

“…Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA…”
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A genetic study of Wilson's disease in the United Kingdom by COFFEY, Alison J, DURKIE, Miranda, MIELI-VERGANI, Giorgina, KIRK, Richard, ELIZABETH ALLEN, K, NICHOLL, David, WONG, Siew, GRIFFITHS, William, SMITHSON, Sarah, GIFFIN, Nicola, TAHA, Ali, CONNOLLY, Sally, HAGUE, Stephen, GILLETT, Godfrey T, TANNER, Stuart, BONHAM, Jim, SHARRACK, Basil, PALOTIE, Aarno, RATTRAY, Magnus, DALTON, Ann, BANDMANN, Oliver, MCLAY, Kirsten, EMMERSON, Jennifer, LO, Christine, KLAFFKE, Stefanie, JOYCE, Christopher J, DHAWAN, Anil, HADZIC, Nedim

“…Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to…”
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Mycophenolate mofetil to treat mid‐dermal elastolysis by Smithson, Sarah L., Orchard, David, Scardamaglia, Laura

“…Mid‐dermal elastolysis is an acquired skin condition affecting the elastin fibers of the dermis, resulting in laxity of the skin. We report a case of…”
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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome by Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.

“…Excessive growth of terminal hair around the elbows (hypertrichosis cubiti) has been reported both in isolation and in association with a variable spectrum of…”
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The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins by Xue, Jing-Yi, Wang, Zheng, Smithson, Sarah F, Burren, Christine P, Matsumoto, Naomichi, Nishimura, Gen, Ikegawa, Shiro, Guo, Long

“…Dysosteosclerosis (DOS) is a distinct form of sclerosing bone disease characterized by platyspondyly and progressive osteosclerosis. DOS is genetically…”
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Differing trends in thickness and survival between nodular and non‐nodular primary cutaneous melanoma in Victoria, Australia by Smithson, Sarah L, Pan, Yan, Mar, Victoria

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Pregnancy outcomes in very advanced maternal age women by Smithson, Sarah D., Greene, Naomi H., Esakoff, Tania F.

“…Advanced maternal age is associated with adverse pregnancy and delivery outcomes. Few studies have directly compared outcomes between women of advanced…”
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Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry by Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V. A. M., Lee, Jin‐Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., Singh, Gautam K., Haelst, Mieke M., Nichols, Colin G., Haaften, Gijs

“…Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of…”
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Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report by Mason, Anna E, Grier, David, Smithson, Sarah F, Burren, Christine P, Gradhand, Elise

“…The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across…”
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Screening Adults for Depression in Primary Care by Smithson, Sarah, MD, MPH, Pignone, Michael P., MD, MPH

“…The burden of depression in the United States is substantial. Evidence supports the benefits of screening for depression in all adults, including older…”
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TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton by Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian

“…Transient receptor potential vanilloid 6 (TRPV6) functions in tetramer form for calcium transport. Until now, TRPV6 has not been linked with skeletal…”
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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K + channelopathies by Gripp, Karen W, Smithson, Sarah F, Scurr, Ingrid J, Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B, Wentzensen, Ingrid M, McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E H, van Binsbergen, Ellen, Dinulos, Mary Beth P, Kaplan, Julie D, McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin

“…Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively,…”
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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project by Blakes, Alexander J M, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew G L, Whiffin, Nicola, Baralle, Diana, Lord, Jenny

“…Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are…”
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Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly by Drissi, Ichrak, Fletcher, Emily, Shaheen, Ranad, Nahorski, Michael, Alhashem, Amal M, Lisgo, Steve, Fernández-Jaén, Alberto, Schon, Katherine, Tlili-Graiess, Kalthoum, Smithson, Sarah F, Lindsay, Susan, J Sharpe, Hayley, Alkuraya, Fowzan S, Woods, Geoff

“…Holoprosencephaly is a spectrum of developmental disorder of the embryonic forebrain in which there is failed or incomplete separation of the prosencephalon…”
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature by Reijnders, Margot R F, Janowski, Robert, Alvi, Mohsan, Self, Jay E, van Essen, Ton J, Vreeburg, Maaike, Rouhl, Rob P W, Stevens, Servi J C, Stegmann, Alexander P A, Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T R M, Bok, Levinus A, Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E, Douzgou, Sofia, Cooper, Nicola S, Tan, Ene-Choo, Foo, Roger, Lai, Angeline H M, Rankin, Julia, Green, Andrew, Lönnqvist, Tuula, Isohanni, Pirjo, Williams, Shelley, Ruhoy, Ilene, Carvalho, Karen S, Dowling, James J, Lev, Dorit L, Sterbova, Katalin, Lassuthova, Petra, Neupauerová, Jana, Waugh, Jeff L, Keros, Sotirios, Clayton-Smith, Jill, Smithson, Sarah F, Brunner, Han G, van Hoeckel, Ceciel, Anderson, Mel, Clowes, Virginia E, Siu, Victoria Mok, Ddd Study, The, Selber, Paulo, Leventer, Richard J, Nellaker, Christoffer, Niessing, Dierk, Hunt, David, Baralle, Diana

“…De novo mutations in have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID),…”
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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features by Low, Karen J, Ansari, Morad, Abou Jamra, Rami, Clarke, Angus, El Chehadeh, Salima, FitzPatrick, David R, Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Roessler, Franziska, Selmer, Kaja K, Schneider, Michael C, Stewart, Fiona, Tatton-Brown, Katrina, Thevenon, Julien, Vigeland, Magnus D, Vogt, Julie, Willems, Marjolaine, Zonana, Jonathan, Study, D D D, Smithson, Sarah F

“…PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with…”
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Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor by Tarpey, Patrick S., Raymond, F. Lucy, O’Meara, Sarah, Edkins, Sarah, Teague, Jon, Butler, Adam, Dicks, Ed, Stevens, Claire, Tofts, Calli, Avis, Tim, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Jenkinson, Andrew, Jones, David, Menzies, Andrew, Mironenko, Tatiana, Perry, Janet, Raine, Keiran, Richardson, David, Shepherd, Rebecca, Small, Alexandra, Varian, Jennifer, West, Sofie, Widaa, Sara, Mallya, Uma, Moon, Jenny, Luo, Ying, Holder, Susan, Smithson, Sarah F., Hurst, Jane A., Clayton-Smith, Jill, Kerr, Bronwyn, Boyle, Jackie, Shaw, Marie, Vandeleur, Lucianne, Rodriguez, Jayson, Slaugh, Rachel, Easton, Douglas F., Wooster, Richard, Bobrow, Martin, Srivastava, Anand K., Stevenson, Roger E., Schwartz, Charles E., Turner, Gillian, Gecz, Jozef, Futreal, P. Andrew, Stratton, Michael R., Partington, Michael

“…We have identified three truncating, two splice-site, and three missense variants at conserved amino acids in the CUL4B gene on Xq24 in 8 of 250 families with…”
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