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PLoS genetics, ISSN 1553-7390, 07/2010, Volume 6, Issue 7, pp. e1001015 - 9
Journal Article
F1000Research, ISSN 2046-1402, 2019, Volume 8, p. 273
Background: Lenz-Majewski syndrome (LMS) is characterized by osteosclerosis and hyperostosis of skull, vertebrae and tubular bones as well as craniofacial,... 
Lecithin | Spine | Homeostasis | Vertebra | Osteoblasts | Defects | Genotype & phenotype | Transfection | Missense mutation | Enzymatic activity | Transgenic animals | Scoliosis | Osteosclerosis | Transgenes | Phosphatidylserine | Majewski syndrome | Enzymes | Phenotypes | Vertebrae | Zebrafish | Ribonucleic acid--RNA | Gene expression | Embryos | Investigations | Chondrocytes | Osteoclasts | Mutation
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2012, Volume 49, Issue 11, pp. 669 - 670
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, p. 755
  Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts.... 
Proteins | Genotype & phenotype | Deformities | Genomes | Mutation | Binding sites
Journal Article
Lancet, The, ISSN 0140-6736, 2013, Volume 381, pp. S58 - S58
Abstract Congenital melanocytic naevus (CMN) syndrome is the association of large or multiple CMN with neurological abnormalities, characteristic facial... 
Internal Medicine
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2010, Volume 6, Issue 7
  As a field of study, genomic imprinting has grown rapidly in the last 20 years, with a growing figure of around 100 imprinted genes known in the mouse and... 
Brain research | Fetuses | DNA methylation | Evolution | Deoxyribonucleic acid--DNA
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, p. 224
  Imprinted gene clusters are regulated by long noncoding RNAs (lncRNAs), CCCTC binding factor (CTCF)-mediated boundaries, and DNA methylation. DIRAS3 (also... 
Proteins | Chromatin | DNA methylation | Breast cancer | Ribonucleic acid--RNA | Gene expression
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, p. 611
  Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or... 
Genomics | Glycoproteins | Learning disabilities | Mutation | Cells
Journal Article
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 09/2013, Volume 133, Issue 9, pp. 2229 - 2236
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in , , and have been described... 
MC1R | VARIANTS | RAS | BRAF MUTATIONS | HIGH-FREQUENCY | PHENOTYPE | NEUROLOGICALLY ASYMPTOMATIC CHILDREN | ASSOCIATION | REGISTRY | MOSAICISM | DERMATOLOGY | Meningeal Neoplasms - epidemiology | Prevalence | Nevus, Pigmented - epidemiology | Humans | Child, Preschool | Male | Neurocutaneous Syndromes - congenital | Meningioma - genetics | Mutation, Missense - genetics | Loss of Heterozygosity - genetics | Hamartoma - pathology | Young Adult | Hamartoma - genetics | Nevus, Pigmented - genetics | Meningioma - epidemiology | Zygote | Female | Genetic Predisposition to Disease - epidemiology | Neurocutaneous Syndromes - epidemiology | Child | Melanosis - epidemiology | Melanosis - genetics | Neurocutaneous Syndromes - genetics | Genetic Predisposition to Disease - genetics | Meningeal Neoplasms - genetics | Membrane Proteins - genetics | Central Nervous System Neoplasms - genetics | Risk Factors | Hamartoma - epidemiology | Central Nervous System Neoplasms - epidemiology | Melanosis - congenital | Skin Neoplasms - epidemiology | Nevus, Pigmented - congenital | Magnetic Resonance Imaging | Meningioma - pathology | Central Nervous System Neoplasms - pathology | GTP Phosphohydrolases - genetics | Skin Neoplasms - congenital | Skin Neoplasms - genetics | Adolescent | Mosaicism | Meningeal Neoplasms - pathology | Index Medicus | Original
Journal Article
Nature Reviews Endocrinology, ISSN 1759-5029, 02/2017, Volume 13, Issue 2, pp. 105 - 124
Journal Article