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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Published in:
PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008130
By:
- Garnai, Sarah J.;
- Brinkmeier, Michelle L.;
- Emery, Ben;
- Aleman, Tomas S.;
- Pyle, Louise C.;
- Veleva-Rotse, Biliana;
- Sisk, Robert A.;
- Rozsa, Frank W.;
- Ozel, Ayse Bilge;
- Li, Jun Z.;
- Moroi, Sayoko E.;
- Archer, Steven M.;
- Lin, Cheng-mao;
- Sheskey, Sarah;
- Wiinikka-Buesser, Laurel;
- Eadie, James;
- Urquhart, Jill E.;
- Black, Graeme C.M.;
- Othman, Mohammad I.;
- Boehnke, Michael
Publication type:
Article
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Published in:
Human Genetics, 2021, v. 140, n. 7, p. 1061, doi. 10.1007/s00439-021-02274-3
By:
- Li, Dong;
- March, Michael E.;
- Fortugno, Paola;
- Cox, Liza L.;
- Matsuoka, Leticia S.;
- Monetta, Rosanna;
- Seiler, Christoph;
- Pyle, Louise C.;
- Bedoukian, Emma C.;
- Sánchez-Soler, María José;
- Caluseriu, Oana;
- Grand, Katheryn;
- Tam, Allison;
- Aycinena, Alicia R. P.;
- Camerota, Letizia;
- Guo, Yiran;
- Sleiman, Patrick;
- Callewaert, Bert;
- Kumps, Candy;
- Dheedene, Annelies
Publication type:
Article
Identification of 22 susceptibility loci associated with testicular germ cell tumors.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24334-y
By:
- Pluta, John;
- Pyle, Louise C.;
- Nead, Kevin T.;
- Wilf, Rona;
- Li, Mingyao;
- Mitra, Nandita;
- Weathers, Benita;
- D'Andrea, Kurt;
- Almstrup, Kristian;
- Anson-Cartwright, Lynn;
- Benitez, Javier;
- Brown, Christopher D.;
- Chanock, Stephen;
- Chen, Chu;
- Cortessis, Victoria K.;
- Ferlin, Alberto;
- Foresta, Carlo;
- Gamulin, Marija;
- Gietema, Jourik A.;
- Grasso, Chiara
Publication type:
Article
The discipline of dysmorphology and the beauty of art.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 141, doi. 10.1002/ajmg.c.31914
By:
- Pyle, Louise C.
Publication type:
Article
A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 2, p. 304, doi. 10.1002/ajmg.c.31562
By:
- Pyle, Louise C.;
- Nathanson, Katherine L.
Publication type:
Article
Expanding the reproductive organ phenotype of CHD7‐spectrum disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1418, doi. 10.1002/ajmg.a.63148
By:
- Nomakuchi, Tomoki T.;
- Danowitz, Melinda;
- Stewart, Blythe;
- Leonard, Jacqueline;
- Izumi, Kosuke;
- Krantz, Ian;
- Kolon, Thomas F.;
- Langdon, David;
- Skraban, Cara;
- Van Batavia, Jason;
- Zackai, Elaine;
- Jiao, Kai;
- Linn, Rebecca;
- Alexander, Caitlin;
- Zaontz, Mark;
- Vogiatzi, Maria G.;
- Pyle, Louise C.
Publication type:
Article
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 889, doi. 10.1002/ajmg.a.62023
By:
- Gileta, Alexander F.;
- Helgeson, Maria L.;
- Leonard, Jacqueline M. M.;
- Pyle, Louise C.;
- Subramanian, Hari P.;
- Arndt, Kelly;
- Hawkes, Colin P.;
- del Gaudio, Daniela
Publication type:
Article
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 969, doi. 10.1002/ajmg.a.38620
By:
- Pinz, Hailey;
- Pyle, Louise C.;
- Li, Dong;
- Izumi, Kosuke;
- Skraban, Cara;
- Tarpinian, Jennifer;
- Braddock, Stephen R.;
- Telegrafi, Aida;
- Monaghan, Kristin G.;
- Zackai, Elaine;
- Bhoj, Elizabeth J.
Publication type:
Article
Activation of the Cystic Fibrosis Transmembrane Conductance Regulator by the Flavonoid Quercetin.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2010, v. 43, n. 5, p. 607, doi. 10.1165/rcmb.2009-0281OC
By:
- Pyle, Louise C.;
- Fulton, Jennifer C.;
- Sloane, Peter A.;
- Backer, Kyle;
- Mazur, Marina;
- Prasain, Jeevan;
- Barnes, Stephen;
- Clancy, J. P.;
- Rowe, Steven M.
Publication type:
Article
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 183, doi. 10.1111/cge.14076
By:
- Stevens, Servi J. C.;
- Stumpel, Constance T. R. M.;
- Diderich, Karin E. M.;
- van Slegtenhorst, Marjon A.;
- Abbott, Mary‐Alice;
- Manning, Courtney;
- Balciuniene, Jorune;
- Pyle, Louise C.;
- Leonard, Jacqueline;
- Murrell, Jill R.;
- van de Putte, Romy;
- van Rooij, Iris A. L. M.;
- Hoischen, Alexander;
- Lasko, Paul;
- Brunner, Han G.
Publication type:
Article

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