SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
…, A Verloes, A Rauch, K Steindl, M Zweier, I Scheer… - Nature …, 2017 - nature.com
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed …
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed …
Severe congenital heart defects are associated with global reduction of neonatal brain volumes
Objectives To determine neonatal global and regional brain volumes in infants with congenital
heart disease (CHD) in comparison with healthy controls and to determine brain growth. …
heart disease (CHD) in comparison with healthy controls and to determine brain growth. …
CRIM-negative infantile Pompe disease: 42-month treatment outcome
…, A Klein, A Köhli-Wiesner, D Veraguth, I Scheer… - Journal of inherited …, 2010 - Springer
Pompe disease is a rare lysosomal glycogen storage disorder characterized by deficiency
of acid α-glucosidase enzyme (GAA) and caused by mutations in the GAA gene. Infantile-type …
of acid α-glucosidase enzyme (GAA) and caused by mutations in the GAA gene. Infantile-type …
Sedation for magnetic resonance imaging using propofol with or without ketamine at induction in pediatrics—a prospective randomized double‐blinded study
…, R OGorman Tuura, R Klaghofer, I Scheer… - Pediatric …, 2018 - Wiley Online Library
Introduction Deep sedation using propofol has become a standard technique in children.
This double‐blinded randomized clinical trial aims to compare the clinical effects of propofol‐…
This double‐blinded randomized clinical trial aims to compare the clinical effects of propofol‐…
Structural brain lesions in adolescents with congenital heart disease
M von Rhein, I Scheer, T Loenneker, R Huber… - The Journal of …, 2011 - Elsevier
OBJECTIVES: To assess long-term neurodevelopmental outcome of adolescents with congenital
heart disease after open-heart surgery and to evaluate whether deficits are associated …
heart disease after open-heart surgery and to evaluate whether deficits are associated …
Benchmarking against the MOMS trial: Zurich results of open fetal surgery for spina bifida
…, P Biro, D Wille, B Latal, I Scheer… - Fetal diagnosis and …, 2020 - karger.com
Introduction: The Management of Myelomeningocele Study, aka the MOMS trial, was
published in 2011 in the New England Journal of Medicine. This prospective randomized …
published in 2011 in the New England Journal of Medicine. This prospective randomized …
Low-dose spiral CT: applicability to paediatric chest imaging
P Rogalla, B Stöver, I Scheer, R Juran, G Gaedicke… - Pediatric …, 1999 - Springer
Background. Spiral CT of the chest is an imaging technique with unequivocal indications
and proven higher sensitivity and specificity than conventional chest X-rays. However, …
and proven higher sensitivity and specificity than conventional chest X-rays. However, …
[HTML][HTML] Delayed cortical gray matter development in neonates with severe congenital heart disease
…, A Buchmann, B Latal, W Knirsch, I Scheer… - Pediatric …, 2016 - nature.com
Background: This study aimed to assess cortical gray matter growth and maturation in
neonates with congenital heart disease (CHD). Methods: Thirty-one (near) term neonates with …
neonates with congenital heart disease (CHD). Methods: Thirty-one (near) term neonates with …
Cerebral lesions on magnetic resonance imaging correlate with preoperative neurological status in neonates undergoing cardiopulmonary bypass surgery
…, B Latal, R Liamlahi, R Prêtre, I Scheer… - European Journal of …, 2014 - academic.oup.com
OBJECTIVES To determine the prevalence, spectrum and course of cerebral lesions in
neonates with congenital heart disease (CHD) undergoing full flow cardiopulmonary bypass (…
neonates with congenital heart disease (CHD) undergoing full flow cardiopulmonary bypass (…
[HTML][HTML] Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
…, MM Lees, L Pinelli, R Romaniello, I Scheer… - Orphanet journal of rare …, 2012 - Springer
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert
syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, …
syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, …