Works matching AU Smith, Ann C. M.

Results: 15

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1774, doi. 10.1002/humu.23339

By:

Chen, Li;
Jensik, Philip J.;
Alaimo, Joseph T.;
Walkiewicz, Magdalena;
Berger, Seth;
Roeder, Elizabeth;
Faqeih, Eissa A.;
Bernstein, Jonathan A.;
Smith, Ann C. M.;
Mullegama, Sureni V.;
Saffen, David W.;
Elsea, Sarah H.

Publication type:

Article

Variegation of autism related traits across seven neurogenetic disorders.

Published in:

Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-01895-0

By:

Lee, Nancy Raitano;
Niu, Xin;
Zhang, Fengqing;
Clasen, Liv S.;
Kozel, Beth A.;
Smith, Ann C. M.;
Wallace, Gregory L.;
Raznahan, Armin

Publication type:

Article

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022861

By:

Vilboux, Thierry;
Ciccone, Carla;
Blancato, Jan K.;
Cox, Gerald F.;
Deshpande, Charu;
Introne, Wendy J.;
Gahl, William A.;
Smith, Ann C. M.;
Huizing, Marjan

Publication type:

Article

PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM.

Published in:

Prenatal Diagnosis, 1996, v. 16, n. 4, p. 323, doi. 10.1002/(SICI)1097-0223(199604)16:4<323::AID-PD856>3.0.CO;2-5

By:

CHRISTIAN, SUSAN L.;
SMITH, ANN C. M.;
MACHA, MICHELLE;
BLACK, SUSAN H.;
ELDER, FREDERICK F. B.;
JOHNSON, JAMIE M.-P.;
RESTA, ROBERT G.;
SURTI, URVASHI;
SUSLAK, LORRAINE;
VERP, MARION S.;
LEDBETTER, DAVID H.

Publication type:

Article

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 490, doi. 10.1002/ajmg.a.63049

By:

Vocke, Cathy D.;
Fleming, Leah R.;
Piskorski, Anna M.;
Amin, Ali;
Phornphutkul, Chanika;
de la Monte, Suzanne;
Vilboux, Thierry;
Duncan, Folami;
Pellegrino, Joan;
Braddock, Bonnie;
Middelton, Lindsay A.;
Schmidt, Laura S.;
Merino, Maria J.;
Cowen, Edward W.;
Introne, Wendy J.;
Linehan, W. Marston;
Smith, Ann C. M.

Publication type:

Article

Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 224, doi. 10.1002/ajmg.a.61003

By:

Smith, Ann C. M.;
Morse, Rebecca S.;
Introne, Wendy;
Duncan, Wallace C.

Publication type:

Article

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2383, doi. 10.1002/ajmg.a.37602

By:

Yeetong, Patra;
Vilboux, Thierry;
Ciccone, Carla;
Boulier, Kristin;
Schnur, Rhonda E.;
Gahl, William A.;
Huizing, Marjan;
Laje, Gonzalo;
Smith, Ann C. M.

Publication type:

Article

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 535, doi. 10.1007/s004390100604

By:

Liburd, Nikki;
Ghosh, Manju;
Riazuddin, Saima;
Naz, Sadaf;
Khan, Shaheen;
Ahmed, Zubair;
Riazuddin, Sheikh;
Yong Liang;
Menon, Puthezhath S. N.;
Smith, Tenesha;
Smith, Ann C. M.;
Ken-Shiung Chen;
Lupski, James R.;
Wilcox, Edward R.;
Potocki, Lorraine;
Friedman, Thomas B.

Publication type:

Article

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 157, doi. 10.1093/hmg/6.2.157

By:

Lo Nigro, Cristiana;
Chong, Samuel S.;
Smith, Ann C. M.;
Dobyns, William B.;
Carrozzo, Romeo;
Ledbetter, David H.

Publication type:

Article

A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 147, doi. 10.1093/hmg/6.2.147

By:

Chong, Samuel S.;
Pack, Svetlana D.;
Roschke, Anna V.;
Tanigami, Akira;
Carrozzo, Romeo;
Smith, Ann C. M.;
Dobyns, William B.;
Ledbetter, David H.

Publication type:

Article

Analysis of the Sensory Profile in Children with Smith-Magenis Syndrome.

Published in:

Physical & Occupational Therapy in Pediatrics, 2012, v. 32, n. 1, p. 48, doi. 10.3109/01942638.2011.572152

By:

Hildenbrand, Hanna L.;
Smith, Ann C. M.

Publication type:

Article

Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith-Magenis Syndrome and a Twin Control.

Published in:

Physical & Occupational Therapy in Pediatrics, 2009, v. 29, n. 3, p. 239, doi. 10.1080/01942630903028408

By:

Smith, Michaele R.;
Hildenbrand, Hanna;
Smith, Ann C. M.

Publication type:

Article

Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2006, v. 36, n. 4, p. 541, doi. 10.1007/s10803-006-0093-2

By:

Martin, Staci C.;
Wolters, Pamela L.;
Smith, Ann C. M.

Publication type:

Article

Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome.

Published in:

Laryngoscope, 2011, v. 121, n. 10, p. 2250, doi. 10.1002/lary.22151

By:

Guardiani, Elizabeth;
Zalewski, Christopher;
Brewer, Carmen;
Merideth, Melissa;
Introne, Wendy;
Smith, Ann C. M.;
Gordon, Leslie;
Gahl, William;
Kim, H. Jeffrey

Publication type:

Article

Auditory Phenotype of Smith-Magenis Syndrome.

Published in:

Journal of Speech, Language & Hearing Research, 2017, v. 60, n. 4, p. 1076, doi. 10.1044/2016_JSLHR-H-16-0024

By:

Brendal, Megan A.;
King, Kelly A.;
Zalewski, Christopher K.;
Finucane, Brenda M.;
Introne, Wendy;
Brewer, Carmen C.;
Smith, Ann C. M.

Publication type:

Article