| Table of Contents, Volume 172C, Number 4, December 2016 |
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| Cover Image, Volume 172C, Number 4, December 2016 |
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| Publication schedule for 2016 |
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| Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies |
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| Alternative designs for clinical trials in rare diseases |
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| Gene and cell‐based therapies for inherited retinal disorders: An update |
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| Angelman syndrome: Current and emerging therapies in 2016 |
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| Chromosome therapy: Potential strategies for the correction of severe chromosome aberrations |
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| Treatment of genetic disorders—A vision coming into focus |
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| Pharmacological and biological therapeutic strategies for osteogenesis imperfecta |
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| Emerging cellular and gene therapies for congenital anemias |
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| Table of Contents, Volume 172C, Number 3, September 2016 |
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| Cover Image, Volume 172C, Number 3, September 2016 |
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| Perspectives on the care and advances in the management of children with trisomy 13 and 18 |
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| Publication schedule for 2016 |
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| A tumor profile in Edwards syndrome (trisomy 18) |
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| Wilms tumor and trisomy 18: Is there an association? |
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| Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes |
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| Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18 |
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| Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25‐year, single‐center review |
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| Medical interventions and survival by gender of children with trisomy 18 |
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| Trisomy 13 and 18: Selecting the road previously not taken |
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| Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities |
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| Cover Image, Volume 172C, Number 2, June 2016 |
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| Publication schedule for 2016 |
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| Cytogenetics |
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| Introduction |
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| Prenatal Diagnostics |
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| Cornelia de Lange Syndrome |
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| Table of Contents, Volume 172C, Number 2, June 2016 |
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| Confined placental mosaicism and its impact on confirmation of NIPT results |
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| From picnics in the park to board rooms in the United States and the world: Our journey with Dr. Jackson |
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| Special cases in Cornelia de Lange syndrome: The Spanish experience |
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| Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome |
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| Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients |
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| Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment |
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| A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome |
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✓ |
✓ |
italian |
| Dr. Laird G. Jackson Festschrift |
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| Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series |
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| Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses |
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| Sleep disorders in Cornelia de Lange syndrome |
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| Using fetal cells for prenatal diagnosis: History and recent progress |
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| <i>NIPBL</i> expression levels in CdLS probands as a predictor of mutation type and phenotypic severity |
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| Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion |
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| Characterization of limb differences in children with Cornelia de Lange Syndrome |
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| Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome |
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| Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome |
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| Buggies, villi, cornelia, and genes: My extended mentorship with LG Jackson |
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| Laird Jackson: Role model, mentor and friend |
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| Cytogenetic highlights and transitions |
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| Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features |
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| The <i>Drosophila melanogaster</i> model for Cornelia de Lange syndrome: Implications for etiology and therapeutics |
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| Genome stability: What we have learned from cohesinopathies |
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| A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss |
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| Table of Contents, Volume 172C, Number 1, March 2016 |
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| Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients |
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| Publication schedule for 2016 |
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| Cover Image, Volume 172C, Number 1, March 2016 |
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| A family is born |
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| The orthopedic characterization of Goltz syndrome |
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| <b>In memoriam</b>—A salute to Dr. Carlos F. Salinas and Dr. Robert Goltz |
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| Dermatologic findings of focal dermal hypoplasia (Goltz syndrome) |
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| Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals |
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| Oral phenotype and variation in focal dermal hypoplasia |
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| International research symposium on Goltz syndrome |
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| Gynecologic findings in Goltz syndrome: A case series |
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| Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz–Gorlin syndrome) |
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| Genetically engineered mouse models to evaluate the role of Wnt secretion in bone development and homeostasis |
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| Cognitive and psychological functioning in focal dermal hypoplasia |
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| Goltz syndrome and <i>PORCN</i>: A view from Europe |
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