Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 …

A Mussa, C Leoni, M Iacoviello, D Carli… - Journal of Medical …, 2023 - jmg.bmj.com
Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …

[HTML][HTML] Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

L Micale, B Augello, C Fusco, A Selicorni… - Orphanet journal of rare …, 2011 - Springer
Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple
congenital anomalies/mental retardation syndrome characterized by a peculiar face, short …

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

CP Diggle, DA Parry, CV Logan, P Laissue… - Human …, 2012 - Wiley Online Library
Pachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited
multisystem disorder, whose features closely mimic the reactive osteoarthropathy that …

[HTML][HTML] DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

J Kerkhof, GM Squeo, H McConkey, MA Levy… - Genetics in …, 2022 - Elsevier
Purpose Chromatinopathies include more than 50 disorders caused by disease-causing
variants of various components of chromatin structure and function. Many of these disorders …

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

L Pannone, G Bocchinfuso, E Flex, C Rossi… - Human …, 2017 - Wiley Online Library
Germline mutations in PTPN11, the gene encoding the Src‐homology 2 (SH2) domain‐
containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively …

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

E Botta, AF Theil, A Raams, G Caligiuri… - Human Molecular …, 2021 - academic.oup.com
Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by
sulfur-deficient brittle hair and nails and scaly skin, but with otherwise remarkably variable …

Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes

F Gurrieri, M Accadia - Endocrine Involvement in Developmental …, 2009 - karger.com
Imprinted genes are expressed from only one of the two parental alleles. A consequence of
genomic imprinting is that viable embryos must receive two haploid genome complements …

Myocardial global performance index as a predictor of in-hospital cardiac events in patients with first myocardial infarction

L Ascione, M De Michele, M Accadia, S Rumolo… - Journal of the American …, 2003 - Elsevier
OBJECTIVE: We sought to assess the ability of a Doppler index of global myocardial
performance (MPI), measured at entry, to predict inhospital cardiac events in a series of …

[HTML][HTML] Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or …

L Pignata, F Cecere, A Verma, B Hay Mele… - Clinical …, 2022 - Springer
Abstract Background Beckwith–Wiedemann syndrome (BWS) and
Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by …

Effect of pacing the right ventricular mid‐septum tract in patients with permanent atrial fibrillation and low ejection fraction

C Muto, L Ottaviano, M Canciello… - Journal of …, 2007 - Wiley Online Library
Introduction: Permanent right ventricular (RV) pacing leads have been traditionally
implanted in the right ventricular apex (RVA). Nowadays, some deleterious effects of RVA …