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2,732 Newest Publications in american journal of medical genetics part a


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The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

22-Dec-2017 | Frederike L. Harms, Malik Alawi, David J. Amor, Tiong Y. Tan, Goran Cuturilo, Christina Lissewski, Julia Brinkmann, ..., American Journal of Medical Genetics Part A, 2017

Noonan syndrome is characterized by typical craniofacial dysmorphism, postnatal growth retardation, congenital heart defect, and learning difficulties and belongs to the RASopathies, a group of neurodevelopmental disorders caused by germline mutations in genes encoding components of the ...


A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

21-Dec-2017 | Lauren Jeffries, Hirohito Shima, Weizhen Ji, David Panisello‐Manterola, James McGrath, Lynne M. Bird, Monica Konstan ..., American Journal of Medical Genetics Part A, 2017

Germline gain‐of‐function variants in SAMD9 have been associated with a high risk of mortality and a newly recognized constellation of symptoms described by the acronym MIRAGE: Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy. Here, we ...


Manifestation of recessive combined D‐2‐, L‐2‐hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome

19-Dec-2017 | Mariko Eguchi, Erina Ozaki, Toshifumi Yamauchi, Masaaki Ohta, Takashi Higaki, Kiyoshi Masuda, Issei Imoto, Eiichi Is ..., American Journal of Medical Genetics Part A, 2017

22q11.2 deletion syndrome is one of the most common human microdeletion syndromes. The clinical phenotype of 22q11.2 deletion syndrome is variable, ranging from mild to life‐threatening symptoms, depending mainly on the extent of the deleted region. Brain malformations described in association ...


The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

19-Dec-2017 | Laura S. Farach, Mary E. Little, Angela L. Duker, Clare V. Logan, Andrew Jackson, Jaqueline T. Hecht, Michael Bober, American Journal of Medical Genetics Part A, 2017

RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe ...


Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results

18-Dec-2017 | Stephanie A. Kraft, Carmit K. McMullen, Kathryn M. Porter, Tia L. Kauffman, James V. Davis, Jennifer L. Schneider, K ..., American Journal of Medical Genetics Part A, 2017

As expanded genome‐scale carrier screening becomes increasingly prevalent, patients will face decisions about whether to receive results about a vast number of genetic conditions. Understanding patient preferences is important to meaningfully demonstrate the ethical goal of respect and support ...


Mutations of KIF5C cause a neurodevelopmental disorder of infantile‐onset epilepsy, absent language, and distinctive malformations of cortical development

19-Oct-2017 | Savannah Michels, Kimberly Foss, Kaylee Park, Katie Golden‐Grant, Russell Saneto, Jonathan Lopez, Ghayda M. Mirzaa, American Journal of Medical Genetics Part A, 2017

The clinical diagnosis of malformations of cortical development (MCDs) is often challenging due to the complexity of the brain malformation by neuroimaging, the rarity of individual malformation syndromes, and the rapidly evolving genetic landscape of these disorders facilitated with the use of ...


Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae

28-Sep-2017 | Sarah Eppley, Robert J. Hopkin, Bryce Mendelsohn, Anne M. Slavotinek, American Journal of Medical Genetics Part A, 2017

We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing ...


Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

26-Sep-2017 | Marion Luisin, Julien Chevreau, Céline Klein, Philippe Naepels, Bénédicte Demeer, Michèle Mathieu‐Dramard, Guillaume ..., American Journal of Medical Genetics Part A, 2017

Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia‐unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, ...


Mutations in folate transporter genes and risk for human myelomeningocele

26-Sep-2017 | Tina O. Findley, Joy C. Tenpenny, Michelle R. O'Byrne, Alanna C. Morrison, James E. Hixson, Hope Northrup, Kit Sing Au, American Journal of Medical Genetics Part A, 2017

The molecular mechanisms linking folate deficiency and neural tube defect (NTD) risk in offspring remain unclear. Folate transporters (SLC19A1, SLC46A1, SLC25A32, and FOLH1) and folate receptors (FOLR1, FOLR2, and FOLR3) are suggested to play essential roles in transporting folate from maternal ...


Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

25-Sep-2017 | Agnieszka Kalinska‐Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Aleksandra Gerg ..., American Journal of Medical Genetics Part A, 2017

Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti‐like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report ...


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