Results 81 to 90 of about 227,365 (300)

A survey of chromosome anomalies in Malta [PDF]

, 1989
433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core  

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Prevalence and pattern of congenital heart disease among neonates in Gorgan, Northern Iran (2007-2008) [PDF]

, 2011
Objective: Congenital heart disease (CHD) is the most common congenital anomaly newborns. The aim of this longitudinal, hospital-based study was to evaluate the prevalence and pattern of CHD among Iranian newborns in Gorgan, Northern Iran. Methods: 11739
Golalipour, M.J., Mirfazeli, A., Nikyarspi-Sup, B., Qourbani, M., Sedehi, M.   +4 more
core  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]

, 2018
Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush, Fletcher, Steven, Metalwala, Zohra, Okunseri, Christopher   +3 more
core   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Incidence of cleft lip and palate in Gorgan - Northern Iran: An epidemiological study [PDF]

, 2012
Objective: Cleft lip with or without cleft palate is the most common orofacial congenital anomaly among live births. This study was carried out to determine the incidence rate of oral clefting in Gorgan, Northern Iran during 2004-2009.
Golalipour, M.J., Hosseinpour, K.R., Kaviany, N., Mirfazeli, A.   +3 more
core   +2 more sources

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Epidemiology of idiopathic pulmonary fibrosis: a population registry-based study

Orphanet Journal of Rare Diseases
Background Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive respiratory rare disease characterized by an irreversible loss of lung function, with unknown etiology and poor prognosis. Methods A population registry-based study was conducted
Gorini Francesca, Santoro Michele, Pierini Anna, Cameli Paolo, Chimera Davide, Lavorini Federico, Pistelli Francesco, Rosi Elisabetta, Tavanti Laura, Tomassetti Sara, Laura Carrozzi, Bargagli Elena, Coi Alessio   +12 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source