Clinical‐etiologic correlation in children with Prader‐Willi syndrome (PWS): An interdisciplinary study

María Torrado, Verónica Araoz, Edgardo Baialardo, +8

American Journal of Medical Genetics Part A

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Anika Wehrle, Tomasz M. Witkos, Sheila Unger, +17

JCI Insight

GeneticsMolecular GeneticsCytoskeletonHypomorphic MutationsCellular Physiology +14

TRPV4‐pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

Tae‐Joon Cho, Kazu Matsumoto, Virginia Fano, +13

American Journal of Medical Genetics Part A

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, +31

European Journal of Human Genetics

EngineeringMendelian DisorderGenetic DisorderMedicineGenetics +5

[Growth references for weight and height for Argentinian girls and boys from birth to maturity: incorporation of data from the World Health Organisation from birth to 2 years and calculation of new percentiles and LMS values].

Horacio Lejarraga, Mariana del Pino, Virginia Fano, +1

PubMed

NutritionNeonatologyAnthropometric IndicatorObesityBody Composition +16

Whole‐exome sequencing detects somatic mutations of <i>IDH1</i> in metaphyseal chondromatosis with <scp>D</scp>‐2‐hydroxyglutaric aciduria (MC‐HGA)

Lisenka E.L.M. Vissers, Virginia Fano, Diego Martinelli, +15

American Journal of Medical Genetics Part A

Unrelated PatientsExome SequencingGeneticsGenetic EpidemiologyPathology +22

Growth references for height, weight, and head circumference for Argentine children with achondroplasia

Mariana del Pino, Virginia Fano, Horacio Lejarraga

European Journal of Pediatrics

Growth ReferencesHead CircumferenceThumb HypoplasiaBody SizeArgentine Children +2

Advanced Age and Medication Prescription: More Years, Less Medications? A Nationwide Report From the Italian Medicines Agency

Graziano Onder, Alessandra Marengoni, Pierluigi Russo, +118

Journal of the American Medical Directors Association

Primary CareAdvanced AgeHealth PolicyGeriatricsPrescription Drugs +8

Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth

Mariana del Pino, Rosario Ramos Mejía, Virginia Fano

American Journal of Medical Genetics Part A

Growth velocity and biological variables during puberty in achondroplasia

Mariana del Pino, Virginia Fano, Paula Adamo

Journal of Pediatric Endocrinology and Metabolism