Works by Olney, Ann Haskins

Results: 24

Turner syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 10, p. 812, doi. 10.1177/014556139807701006

By:

Haskins Olney, Ann;
Schaefer, G. Bradley

Publication type:

Article

Kabuki Syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 9, p. 734, doi. 10.1177/014556139807700909

By:

Olney, Ann Haskins;
Schaefer, G. Bradley

Publication type:

Article

Oto-palatal-digital syndromes.

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 8, p. 586, doi. 10.1177/014556139807700806

By:

Schaefer, G. Bradley;
Kolodziej, Peg;
Olney, Ann Haskins

Publication type:

Article

Opitz Syndrome (G/BBB Syndrome).

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 7, p. 528, doi. 10.1177/014556139807700706

By:

MacDonald, Madeleine R.;
Olney, Ann Haskins

Publication type:

Article

Velocardiofacial syndrome (Shprintzen syndrome, chromosome 22q11 deletion syndrome).

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 6, p. 460, doi. 10.1177/014556139807700607

By:

Olney, Ann Haskins;
Kolodziej, Peg

Publication type:

Article

Pallister-Hall syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 5, p. 370, doi. 10.1177/014556139807700506

By:

Olney, Ann Haskins;
Kolodziej, Peg

Publication type:

Article

Waardenburg syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 4, p. 257, doi. 10.1177/014556139807700405

By:

Smith, Shelley;
Kolodziej, Peg;
Olney, Ann Haskins

Publication type:

Article

Branchio-oto-renal Syndrome (BOR Syndrome, Melnick-Fraser Syndrome).

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 3, p. 172, doi. 10.1177/014556139807700305

By:

Olney, Ann Haskins;
Kolodziej, Peg

Publication type:

Article

Craniofrontonasal Dysplasia.

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 2, p. 90, doi. 10.1177/014556139807700205

By:

Schaefer, G. Bradley;
Olney, Ann Haskins;
Kolodziej, Peg

Publication type:

Article

Oculo-auriculo-vertebral spectrum.

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 1, p. 17, doi. 10.1177/014556139807700105

By:

Schaefer, G. Bradley;
Olney, Ann Haskins;
Kolodziej, Peg

Publication type:

Article

Van der Woude syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 12, p. 852, doi. 10.1177/014556139707601204

By:

Olney, Ann Haskins;
Schaefer, G. Bradley;
Kolodziej, Peg

Publication type:

Article

Oral-Facial-Digital Syndrome Type I.

Published in:

ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 11, p. 778, doi. 10.1177/014556139707601104

By:

Olney, Ann Haskins;
Kolodziej, Peg;
Schaefer, G. Bradley;
Buehler, Bruce A.

Publication type:

Article

Stickler syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 10, p. 706, doi. 10.1177/014556139707601005

By:

MacDonald, Madeleine R.;
Kolodziej, Peg;
Schaefer, G. Bradley;
Olney, Ann Haskins

Publication type:

Article

Robin sequence.

Published in:

ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 9, p. 620, doi. 10.1177/014556139707600904

By:

Olney, Ann Haskins;
Kolodziej, Peg

Publication type:

Article

The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2161, doi. 10.1002/ajmg.a.61747

By:

Smith, Scott C.;
Olney, Ann Haskins;
Beavers, Angela;
Spaulding, Joanna;
Nelson, Marilu;
Nielsen, Shelly;
Sanmann, Jennifer N.

Publication type:

Article

In memory of Murray Feingold (1930-2015).

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1727, doi. 10.1002/ajmg.a.37729

By:

Schaefer, G. Bradley;
Nowak, Catherine Bearce;
Olney, Ann Haskins

Publication type:

Article

Myhre Syndrome: Clinical Features and Restrictive Cardiopulmonary Complications.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2893, doi. 10.1002/ajmg.a.37273

By:

Starr, Lois J.;
Grange, Dorothy K.;
Delaney, Jeffrey W.;
Yetman, Anji T.;
Hammel, James M.;
Sanmann, Jennifer N.;
Perry, Deborah A.;
Schaefer, G. Bradley;
Olney, Ann Haskins

Publication type:

Article

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2240, doi. 10.1002/ajmg.a.36633

By:

Gripp, Karen W.;
Curry, Cynthia;
Olney, Ann Haskins;
Sandoval, Claudio;
Fisher, Jamie;
Chong, Jessica Xiao‐Ling;
Pilchman, Lisa;
Sahraoui, Rebecca;
Stabley, Deborah L.;
Sol‐Church, Katia

Publication type:

Article

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2020, doi. 10.1002/ajmg.a.34020

By:

Starr, Lois J.;
Truemper, Edward J.;
Pickering, Diane L.;
Sanger, Warren G.;
Olney, Ann Haskins

Publication type:

Article

Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1079, doi. 10.1002/ajmg.a.36432

By:

Starr, Lois J.;
Sanmann, Jennifer N.;
Olney, Ann Haskins;
Wandoloski, Melissa;
Sanger, Warren G.;
Coulter, Donald W.

Publication type:

Article

Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 320, doi. 10.1002/ajmg.a.35817

By:

Rush, Eric T.;
Adam, Margaret P.;
Clark, Robin D.;
Curry, Cynthia;
Hartmann, Julianne E.;
Dobyns, William B.;
Olney, Ann Haskins

Publication type:

Article

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532

By:

Baradaran-Heravi, Alireza;
Raams, Anja;
Lubieniecka, Joanna;
Cho, Kyoung Sang;
DeHaai, Kristi A.;
Basiratnia, Mitra;
Mari, Pierre-Olivier;
Xue, Yutong;
Rauth, Michael;
Olney, Ann Haskins;
Shago, Mary;
Choi, Kunho;
Weksberg, Rosanna A.;
Nowaczyk, Malgorzata J.M.;
Wang, Weidong;
Jaspers, Nicolaas G.J.;
Boerkoel, Cornelius F.

Publication type:

Article

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1285, doi. 10.1002/ajmg.a.35347

By:

Sanmann, Jennifer N.;
Bishay, Danielle L.;
Starr, Lois J.;
Bell, Carla A.;
Pickering, Diane L.;
Stevens, Jadd M.;
Kahler, Stephen G.;
Olney, Ann Haskins;
Schaefer, G. Bradley;
Sanger, Warren G.

Publication type:

Article

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.

Published in:

2013

By:

Reisch, Nicole;
Idkowiak, Jan;
Hughes, Beverly A;
Ivison, Hannah E;
Abdul-Rahman, Omar A;
Hendon, Laura G;
Olney, Ann Haskins;
Nielsen, Shelly;
Harrison, Rachel;
Blair, Edward M;
Dhir, Vivek;
Krone, Nils;
Shackleton, Cedric H L;
Arlt, Wiebke

Publication type:

journal article