Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Melissa A Dempsey"'
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Case Reports in Genetics
Case Reports in Genetics
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. Hutchinson-Gilford Progeria Syndrome (HGPS) is ch
Autor:
J. C. Leblanc, D. Menzies, Soma Das, N. Palmer, David Chitayat, Karen Chong, Sébastien Lévesque, H. Sroka, B. S. Swope, Lauren C. Briere, S. Gopalani, H. Lyon, A. E. Knight Johnson, Joseph R. Siebert, Melissa A Dempsey, Julie Moldenhauer, Eden Haverfield
Publikováno v:
Prenatal Diagnosis. 34:163-167
Objectives Cornelia de Lange syndrome (CdLS) is characterized by distinct facial features, growth retardation, upper limb reduction defects, hirsutism, and intellectual disability. NIPBL mutations have been identified in approximately 60% of patients
Autor:
Soma Das, A Reeder, Melissa A Dempsey, Daniela del Gaudio, Shaun Botes, Kelly Arndt, Christopher A. Tan
Publikováno v:
Clinical Genetics. 85:353-358
Primary Autosomal Recessive Microcephaly (MCPH) is characterized by congenital microcephaly usually without additional clinical findings. The most common gene implicated in MCPH is ASPM and a large percentage of mutations described have been homozygo
Autor:
Maimoona A. Zariwala, Richard J. Wenstrup, Girish V. Putcha, Kasinathan Muralidharan, Ishrag Khababa, Soma Das, Bai-Lin Wu, Stacey Withrow, Nancy Carson, Fred Schaefer, Jessica K. Booker, Karen E. Weck, Rong Mao, Michelle A. Springer, Iris M. Otani, Melissa A Dempsey, Margaret A. Kenna, Marcy L. Hoffmann, John H. Greinwald, Bassem A. Bejjani, Linda Jo Bone Jeng, John C. Carey, Stacey L. Bleoo, Elaine B. Spector, Iris Schrijver, Margaret Lilley, Heidi L. Rehm, William K. Seltzer, Julie M. Gastier-Foster
Publikováno v:
Genetics in Medicine. 9:413-426
Purpose: The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss to help guide diagnostic testing
Publikováno v:
American Journal of Medical Genetics Part A. :370-376
Sakoda complex consists of sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate. Associated abnormalities include optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation and epilepsy
Autor:
Irina Ostrovnaya, G Bradley Schaeffer, Katherine Welch, Gordana Raca, Soma Das, Naomichi Matsumoto, Junichi Kamimura, Ethan Anderes, Christa Lese Martin, Melissa A Dempsey, Asem Alkhateeb, Darrel Waggoner
Publikováno v:
Genetics in Medicine. 7:524-533
Purpose: Sotos syndrome is a genetic disorder characterized primarily by overgrowth, developmental delay, and a characteristic facial gestalt. Defects in the NSD1 gene are present in approximately 80% of patients with Sotos syndrome. The goal of this
Publikováno v:
American journal of medical genetics. Part A. (10)
The chromosome 22q11 region is prone to rearrangements, including deletions and duplications, due to the presence of multiple low copy repeats (LCRs). DiGeorge/velo-cardio-facial syndrome is the most common microdeletion syndrome with more than 90% o
Publikováno v:
Movement Disorders. 26:1766-1767