Results 331 to 340 of about 1,922,511 (410)

Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant. [PDF]

Front Immunol
Beppu S, Nishikawa T, Tomomasa D, Hijikata A, Kasabata H, Terazono H, Ikawa K, Nakamura T, Horikawa S, Nagahama J, Nakamura A, Abematsu T, Nakagawa S, Oketani K, Kanegane H, Okamoto Y.   +15 more
europepmc   +1 more source

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

Parent Reports of Developmental Service Utilization After Newborn Screening. [PDF]

Int J Neonatal Screen
Reynolds E, Potter SN, Scott S, Bailey DB.   +3 more
europepmc   +1 more source

Disclosing to parents newborn carrier status identified by routine blood spot screening [PDF]

, 2004
Dezateux, Carol, Kavanagh, Josephine, Lempert, Tami, Oliver, Sandy, Stewart, Ruth   +4 more
core   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

A National Survey on Congenital Hypothyroidism Newborn Screening in Pakistan. [PDF]

Glob Pediatr Health
Khan SA, Aftab S, Khan YN, Yasir M, Arshad K, Mehak NUA, Rehman SKU, Faiztalpur A, Bahar S, Abdul Razzaq A, Habibullah S, Naseem A, Hussain SS, Sattar H, Usman M, Ayub A, Waris R, Butt TA.   +17 more
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Economic evaluation of newborn screening for congenital cytomegalovirus infection: A systematic review. [PDF]

Eur J Pediatr
Saito H, Sakai K, Tanaka M, Konomura K, Suzuki M, Tajima G, Hoshino E.   +6 more
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco. [PDF]

Int J Neonatal Screen
El Janahi S, Filali M, Boudar Z, Akhattab A, El Jaoudi R, Al Idrissi N, Dini N, Nejjari C, Yahyaoui R, Lloyd-Puryear MA, Ghazal H.   +10 more
europepmc   +1 more source