Fernando Santos-Simarro
Hospital Universitario La Paz
What is this?
Publications 41
#1Jair Tenorio (Hospital Universitario La Paz)H-Index: 9
#2Pablo Alarcón (University of Chile)H-Index: 1
Last. Pablo Lapunzina (Hospital Universitario La Paz)H-Index: 35
view all 27 authors...
Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially during embryonic development. Somatic variants in DNMT3A have been widely studied in different types of tumors, including acute myeloid leukemia, hematopoietic, and lymphoid cancers. Germline gain-of-function variants in this gene have been recently impl...
1 CitationsSource
#1Matthias Baumann (Innsbruck Medical University)H-Index: 15
#2Erin Beaver (Boston Children's Hospital)H-Index: 1
Last. Andreas R. Janecke (Innsbruck Medical University)H-Index: 39
view all 9 authors...
ACTB encodes beta-cytoplasmic actin, an essential component of the cytoskeleton. Based on chromosome 7p22.1 deletions that include the ACTB locus and on rare truncating ACTB variants, a phenotype resulting from ACTB haploinsufficiency was recently proposed. We report putative ACTB loss-of-function variants in four patients. To the best of our knowledge, we report the first 7p22.1 microdeletion confined to ACTB and the second ACTB frameshifting mutation that predicts mRNA decay. A de-novo ACTB p....
#1Jameson Patak (State University of New York Upstate Medical University)H-Index: 3
#2James Gilfert (State University of New York Upstate Medical University)H-Index: 1
Last. Robert Roger Lebel (State University of New York Upstate Medical University)H-Index: 9
view all 20 authors...
1 CitationsSource
#1Silvia Vidal (Hospital Sant Joan de Déu Barcelona)H-Index: 2
#2Nuria Brandi (University of Barcelona)H-Index: 5
Last. Antonio Martínez-Bermejo (Hospital Universitario La Paz)H-Index: 5
view all 32 authors...
Abstract Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical. Here, we attempted to identify other monogenic disorders that share features of RTT. A total of 437 patients with a clinical diagnosis of RTT-like were studied; in 242 patients, a custom panel with 17 genes related to an RTT-like p...
1 CitationsSource
#1Christiane K. Bauer (UHH: University of Hamburg)H-Index: 22
#2Pauline E. Schneeberger (UHH: University of Hamburg)
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
view all 11 authors...
Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KCNK4, encoding K+ channels, have been identified in subjects with ZLS and ZLS-like phenotype, respectively. We report de novo missense variants in KCNN3 in three individuals with typical clinical features of ZLS. KCNN3 (SK3/KCa2.3) constitutes one of ...
#1Andrea AngiusH-Index: 30
#2Paolo Uva (Polaris Industries)H-Index: 18
Last. Laura CrisponiH-Index: 33
view all 20 authors...
Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed ...
2 CitationsSource
#1Jameson PatakH-Index: 3
Last. Robert Roger LebelH-Index: 9
view all 20 authors...
#1Andrea AngiusH-Index: 10
#2Paolo UvaH-Index: 18
Last. Frank RutschH-Index: 29
view all 19 authors...