[PDF][PDF] Syndromic disorders with short stature

Z Şıklar, M Berberoğlu - Journal of clinical research in pediatric …, 2014 - jag.journalagent.com
… These disorders are associated with a number of … At present, GH therapy is used in most
syndromic disorders, although long-… with syndromic disorders should be evaluated extensively. …

Lessons learned from studying syndromic autism spectrum disorders

Y Sztainberg, HY Zoghbi - Nature neuroscience, 2016 - nature.com
Syndromic autism spectrum disorders represent a group of … Investigations of these disorders
in animals have shed light on … syndromic and nonsyndromic autism spectrum disorders, we …

[PDF][PDF] Syndromic disorders caused by disturbed human imprinting

D Carli, E Riberi, GB Ferrero… - Journal of Clinical …, 2020 - jag.journalagent.com
disorders are largely underdiagnosed because of the broad range of clinical signs, the overlap
of presentation among different disorders… known human imprinting disorders, highlighting …

Screening for hormonal, monogenic, and syndromic disorders in obese infants and children

K Mason, L Page, PG Balikcioglu - Pediatric annals, 2014 - journals.healio.com
… hormonal, genetic, or syndromic disorders such as hypothyroidism, … syndromic causes of
childhood obesity and identifies critical features that distinguish “endogenous” obesity disorders

Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology

B Balint, A Vincent, HM Meinck, SR Irani, KP Bhatia - Brain, 2018 - academic.oup.com
… not to miss these potentially treatable disorders, which can also be … disorders related to
neuronal autoantibodies, highlight useful pointers to these conditions, and present a syndromic

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

BA Fernandez, SW Scherer - Dialogues in clinical neuroscience, 2017 - Taylor & Francis
syndromic autism into the following two groups: (i) ASD that occurs in the context of a clinically
defined syndrome-recognizing these disorders … Finally, we recommend that the syndromic

[HTML][HTML] A syndromic neurodevelopmental disorder caused by de novo variants in EBF3

HT Chao, M Davids, E Burke, JG Pappas… - The American Journal of …, 2017 - cell.com
… However, human neurodevelopmental disorders related to … disability, and expressive
speech disorder and carry de novo … by ARX-related disorders, including intellectual disability, …

Syndromic autism revisited: review of the literature and lessons learned

CA Ziats, WG Patterson, M Friez - Pediatric Neurology, 2021 - Elsevier
disorders that share molecular mechanisms implicated in idiopathic autism—highlighting how
syndromic … In addition, we show that disorders with autism as a feature of disease include …

Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing

TK Homma, BL Freire, RSH Kawahira, A Dauber… - The Journal of …, 2019 - Elsevier
… patients had syndromicsyndromic short stature make the clinical diagnosis difficult. Whole
exome sequencing allows the diagnosis of previously undiagnosed patients with syndromic

Syndromic craniofacial disorders

RJ Tibesar, AR Scott - Facial Plastic Surgery Clinics, 2024 - facialplastic.theclinics.com
… It is an autosomal dominant disorder with an incidence of 1 per 30,000 live births and
therefore constitutes the most common syndromic form of craniosynostosis. Virtually all patients …