Results 141 to 150 of about 283,028 (293)

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

ASSESSING THE IMPACT OF COMPUTER-BASED SIMULATIONS ON THE INTERPROFESSIONAL EDUCATION OF UNDERGRADUATE STUDENTS [PDF]

, 2019
Interprofessional Education (IPE) is not unique as it is a concept that has been advocated for more than 40 years by the Institute of Medicine (American Speech-Language-Hearing Association [ASHA], 2016).
Isaacson, Heather
core   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Comparação entre o ensino tradicional e o problematizador na formação em Fonoaudiologia / Comparison between traditional and problematizing teaching in Speech, Language and Hearing Sciences training

Brazilian Journal of Development, 2021
C. H. César, Kelly da Silva, Nathália Monteiro Santos, Pablo Jordão Alcântara Cruz, Ariane Damasceno Pellicani, Raphaela Barroso Guedes Granzotti, Rodrigo Dornelas   +6 more
semanticscholar   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Biossegurança em fonoaudiologia Biosafety in Speech, Language and Hearing Sciences

Revista CEFAC, 2013
OBJETIVO: pesquisar, entre um grupo de fonoaudiólogos, o grau de conhecimento e utilização das normas de biossegurança na rotina clínica. MÉTODO: foi realizada pesquisa por meio de um questionário respondido por cem profissionais de diferentes áreas de atuação (Audiologia Clínica, Audiologia Ocupacional, Voz, Neonatologia, Linguagem, Motricidade ...
Marcela do Amaral de Albuquerque, Valéria da Rocha Silveira Bernardo, Luciana de Ornellas Silva, Leila Coelho Nagib, Silvana Frota   +4 more
openaire   +1 more source

Addressing Literacy: Speech-Language Pathologists’ Use of Literacy-Related Materials [PDF]

, 2012
Arts and Sciences Honors Research GrantRecently, the American Speech-Language-Hearing Association (ASHA) has officially expanded the role of the school speech-language pathologist (SLP) to literacy interventionist, obligated to improve the reading and ...
Schwarz, Sadie
core  

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Cross-Linguistic Syntactic Priming in Late Bilinguals of Levantine Arabic (L1) and English (L2)

Languages
This study investigates the cross-linguistic priming effect in the syntactic written output of late bilingual Levantine Arabic speakers who learn English as a second language. In particular, we examined priming sentence type (simple vs. complex sentences)
Jamal A. Khlifat, Pui Fong Kan
doaj   +1 more source