@article {10856,
	title = {When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report.},
	journal = {J Adolesc Health},
	volume = {64},
	year = {2019},
	month = {2019 Jan},
	pages = {137-138},
	abstract = {<p>Hereditary fructose intolerance is an autosomal recessive disorder of fructose metabolism caused by catalytic deficiency of aldolase B enzyme [1]. The disease is typically expressed when fructose- and sucrose-containing foods are first introduced in the diet; acute manifestations include nausea, vomiting, abdominal distress, and symptomatic hypoglycemia [1,2]. Chronic fructose ingestion eventually leads to poor feeding, growth retardation and gradual liver and/or renal failure [3,4]. Some patients may remain undiagnosed until adulthood because of a self-protective avoidance of sweet tasting food that prevents the development of acute toxicity from fructose containing food; however, these subjects may suffer intermittent symptoms throughout life, leading to potentially serious misdiagnosis [4]. We report the case of a patient with unrecognized hereditary fructose intolerance in which chronic gastrointestinal complaints, low body weight, and unexplained food avoidance were addressed as manifestations of an eating disorder during adolescence.</p>},
	issn = {1879-1972},
	doi = {10.1016/j.jadohealth.2018.07.014},
	author = {Da Lozzo, Prisca and Magnolato, Andrea and Del Rizzo, Irene and Sirchia, Fabio and Bruno, Irene and Barbi, Egidio}
}
@article {10744,
	title = {A Girl with Delayed Puberty and Bumpy Lips.},
	journal = {J Pediatr},
	volume = {203},
	year = {2018},
	month = {2018 12},
	pages = {454-454.e1},
	keywords = {Adolescent, Exons, Female, Genes, Dominant, Humans, Lip, Multiple Endocrine Neoplasia Type 2b, Neoplasm Metastasis, Puberty, Delayed, Thyroid Neoplasms, Thyroidectomy, Tongue},
	issn = {1097-6833},
	doi = {10.1016/j.jpeds.2018.05.043},
	author = {Andrade, Stefanny and Sirchia, Fabio and Faleschini, Elena and Barbi, Egidio}
}
@article {10492,
	title = {ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.},
	journal = {Sci Rep},
	volume = {7},
	year = {2017},
	month = {2017 02 08},
	pages = {42170},
	abstract = {<p>Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 {\texttimes} 10). A meta-analysis of rs6874700 of our previous and present study showed a p value of 9.2 {\texttimes} 10. Developmental biology models were used to clarify the location of ISL1 activity in the forming urinary tract. Genetic lineage analysis of Isl1-expressing cells by the lineage tracer mouse model showed Isl1-expressing cells in the urinary tract of mouse embryos at E10.5 and distributed in the bladder at E15.5. Expression of isl1 in zebrafish larvae staged 48 hpf was detected in a small region of the developing pronephros. Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development.</p>},
	keywords = {Animals, Bladder Exstrophy, Embryo, Mammalian, Female, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Humans, Larva, LIM-Homeodomain Proteins, Mesoderm, Mice, Organogenesis, Polymorphism, Single Nucleotide, Pronephros, Protein Isoforms, Transcription Factors, Urinary Tract, Zebrafish},
	issn = {2045-2322},
	doi = {10.1038/srep42170},
	author = {Zhang, Rong and Knapp, Michael and Suzuki, Kentaro and Kajioka, Daiki and Schmidt, Johanna M and Winkler, Jonas and Yilmaz, {\"O}znur and Pleschka, Michael and Cao, Jia and Kockum, Christina Clementson and Barker, Gillian and Holmdahl, Gundela and Beaman, Glenda and Keene, David and Woolf, Adrian S and Cervellione, Raimondo M and Cheng, Wei and Wilkins, Simon and Gearhart, John P and Sirchia, Fabio and Di Grazia, Massimo and Ebert, Anne-Karolin and R{\"o}sch, Wolfgang and Ellinger, J{\"o}rg and Jenetzky, Ekkehart and Zwink, Nadine and Feitz, Wout F and Marcelis, Carlo and Schumacher, Johannes and Martin{\'o}n-Torres, Federico and Hibberd, Martin Lloyd and Khor, Chiea Chuen and Heilmann-Heimbach, Stefanie and Barth, Sandra and Boyadjiev, Simeon A and Brusco, Alfredo and Ludwig, Michael and Newman, William and Nordenskj{\"o}ld, Agneta and Yamada, Gen and Odermatt, Benjamin and Reutter, Heiko}
}
