| P2093 | author name string | Dawn H Siegel | |
| P2860 | cites work | Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease | Q22009038 |
| | Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B | Q24293248 |
| | Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2) | Q25256135 |
| | Chromatin remodeling, histone modifications, and DNA methylation-how does it all fit together? | Q28203279 |
| | Mechanisms and consequences of somatic mosaicism in humans | Q28205052 |
| | Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion | Q28303984 |
| | The mammalian epigenome | Q29615763 |
| | Gene action in the X-chromosome of the mouse (Mus musculus L.) | Q29618263 |
| | Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation | Q30630015 |
| | Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa | Q33226033 |
| | Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia | Q33596839 |
| | NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. | Q33910158 |
| | NF-kappaB signaling and human disease | Q34264609 |
| | The clinical and diagnostic implications of mosaicism in the neurofibromatoses. | Q34284543 |
| | Blood group chimerism in human multiple births is not rare | Q34391124 |
| | Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia | Q34633997 |
| | Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders | Q35583368 |
| | Translational benefits from research on rare genodermatoses | Q35739736 |
| | Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes | Q35870519 |
| | Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. | Q35946277 |
| | The challenges of Proteus syndrome: diagnosis and management | Q36554428 |
| | Genomic imprinting and dermatological disease | Q36562187 |
| | Endothelial precursor cell migration during vasculogenesis | Q36886729 |
| | McCune-Albright syndrome and disorders due to activating mutations of GNAS1. | Q36971542 |
| | Localized Darier's disease in a Blaschkoid distribution: two cases of phenotypic mosaicism and a review of mosaic Darier's disease | Q36987259 |
| | Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept | Q37600961 |
| | Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. | Q40382056 |
| | Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex | Q40590268 |
| | The lines of Blaschko: a review and reconsideration: Observations of the cause of certain unusual linear conditions of the skin | Q40611138 |
| | Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. | Q40816214 |
| | Twinning: mechanisms and genetic implications | Q41099938 |
| | Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin | Q41370821 |
| | Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3 | Q41877944 |
| | Dohi Memorial Lecture. New aspects of cutaneous mosaicism | Q45857202 |
| | The venous nevus: a distinct vascular malformation suggesting mosaicism | Q50462760 |
| | Array-based comparative genome hybridization in clinical genetics. | Q51584754 |
| | Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. | Q51770374 |
| | Incontinentia pigmenti in male patients. | Q51795578 |
| | Gonadal mosaicism in severe Pallister-Hall syndrome. | Q51944318 |
| | Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. | Q51984223 |
| | A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutation. | Q54762813 |
| | Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. | Q55045180 |
| | Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics | Q57537895 |
| | Feto-Maternal Cell Trafficking: A Transfer of Pregnancy Associated Progenitor Cells | Q57913946 |
| | Gonadal mosaicism in hereditary angioedema | Q58923948 |
| | Genetic and Clinical Mosaicism in a Type of Epidermal Nevus | Q61041045 |
| | Cutaneous manifestation of lethal genes | Q70030402 |
| | Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity | Q71869820 |
| | Segmental manifestation of Darier disease. What is the genetic background in type 1 and type 2 mosaic phenotypes? | Q73828420 |
| | Causes of premature death in Proteus syndrome | Q73851746 |
| | The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism | Q74171900 |
| | Chimerism of the transplanted heart | Q78033938 |
| | The different forms of neurofibromatosis | Q78169959 |
| | Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome | Q80225417 |
| | Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1? | Q80720223 |
| | Superimposed segmental manifestation of polygenic skin disorders | Q81299688 |
| P304 | page(s) | 223-244 | |
| P577 | publication date | 2008-01-01 | |
| P1433 | published in | Advances in dermatology | Q26839851 |
| P1476 | title | Cutaneous mosaicism: a molecular and clinical review | |
| P478 | volume | 24 | |