Search Results - "Faes, Fran"

Diagnosing Autism Spectrum Disorder in Toddlers Born Very Preterm: Estimated Prevalence and Usefulness of Screeners and the Autism Diagnostic Observation Schedule (ADOS) by Vermeirsch, Julie, Verhaeghe, Liedewij, Casaer, Alexandra, Faes, Fran, Oostra, Ann, Roeyers, Herbert

“…This study estimated ASD prevalence in a cohort of 3-year-old very preterm children (N = 55) and investigated the usefulness of parent-reported ASD screeners…”
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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A by Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I, Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P, Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A, Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A, McMillan, Hugh J, Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J

“…Mitochondrial DNA (mtDNA) has been suggested to drive immune system activation, but the induction of interferon signaling by mtDNA has not been demonstrated in…”
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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability by Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn

“…Voltage-gated calcium channels have an important role in neurotransmission. Aberrations affecting genes encoding the alpha subunit of these channels have been…”
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New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish by MORRIS-ROSENDAHL, Deborah J, SEGEL, Reeval, UYANIK, Gökhan, CROCQ, Marc-Antoine, KRAUS, Uwe, DEGEN, Ingrid, FAES, Fran, BORN, A. Peter, CONRAD, Christoph, LOEYS, Bart, SKLOWER BROOKS, Susan, MÜLLER, Laura, ZESCHNIGK, Christine, BOTTI, Christina, RABINOWITZ, Ron

“…Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy,…”
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Congenital Fixed Dilated Pupils Due to ACTA2– Multisystemic Smooth Muscle Dysfunction Syndrome by Roulez, Françoise M J, Faes, Fran, Delbeke, Patricia, Van Bogaert, Patrick, Rodesch, Georges, De Zaeytijd, Julie, Depasse, Fanny, Coucke, Paul J, Meire, Francoise M

“…Congenital fixed dilated pupils (congenital mydriasis) is characterized by hypoplasia or aplasia of the iris muscles, with absence of iris between the…”
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New mutations in the RAB3GAP1 gene in patients with Warburg MICRO Syndrome and a possible founder effect in the Danish population by Morris-Rosendahl, Deborah J, Segel, Reeval, Born, A. Peter, Conrad, Christoph, Loeys, Bart L., Sklower Brooks, Susan, Müller, Laura, Zeschnigk, Christine, Botti, Christina, Rabinowitz, Ron, Uyanik, Gökhan, Crocq, Marc-Antoine, Kraus, Uwe, Degen, Ingrid, Faes, Fran

“…Warburg MICRO Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy,…”
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Urinary hydrocolpos, cloacal malformation and pre-axial polydactyly: a rare variant of neonatal hydrocolpos by Smets, K, Faes, F, Hoebeke, P

“…Hydrocolpos is characterized by a vaginal obstruction with cystic dilatation of the vagina. The latter is usually caused by accumulation of cervical and…”
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