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Cytogenetic and Genome Research, ISSN 1424-8581, 04/2011, Volume 133, Issue 2-4, pp. 136 - 140
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 1015 - 1020
Purpose: De novo variants (DNVs) represent an important fraction of the pathogenic variant burden in holoprosencephaly (HPE). However, unexpected recurrences... 
genetic counseling | somato-gonadal mosaicism | holoprosencephaly | droplet digital PCR | next-generation sequencing | GENETICS & HEREDITY | MUTATIONS | SELECTION | Recurrence | Humans | Risk Factors | Male | Holoprosencephaly - genetics | Holoprosencephaly - pathology | Genetic Variation | Pedigree | Alleles | Female | Heterozygote | Mosaicism | High-Throughput Nucleotide Sequencing
Journal Article
Seminars in Hematology, ISSN 0037-1963, 10/2013, Volume 50, Issue 4, pp. 348 - 359
Human genetic mosaicism is the presence of two or more cellular populations with distinct genotypes in an individual who developed from a single fertilized... 
MITOCHONDRIAL-DNA MUTATIONS | OLLIER DISEASE | TRISOMY-13 MOSAICISM | TETRASOMY 5P MOSAICISM | PATERNAL GONADAL MOSAICISM | ADENYLYL-CYCLASE | STIMULATORY G-PROTEIN | MCCUNE-ALBRIGHT-SYNDROME | HEMATOLOGY | ACTIVATING MUTATIONS | COPY-NUMBER VARIATION | Genome-Wide Association Study | Age Factors | Neoplasms - genetics | Humans | Risk Factors | Mosaicism | Genome, Human
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3096 - 3102
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 06/2019, Volume 104, Issue 10, pp. 4630 - 4638
Context: Molecular mechanisms causing the broad phenotypic diversity of external masculinization in individuals with 45,X/46,XY mosaicism are poorly... 
MIXED GONADAL-DYSGENESIS | GROWTH | ENDOCRINOLOGY & METABOLISM
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 07/2011, Volume 96, Issue 7, pp. E1171 - E1180
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 04/2019, Volume 104, Issue 10, pp. 4366 - 4381
Context: Larger studies on outcomes in males with 45,X/46,XY mosaicism are rare. Objective: To compare health outcomes in males with 45,X/46,XY diagnosed as a... 
CELLS | MANAGEMENT | ASSOCIATIONS | IN-VITRO PRODUCTION | ENDOCRINOLOGY & METABOLISM | PHENOTYPE | GONADAL-DYSGENESIS | KARYOTYPE | TURNER-SYNDROME | GONADOBLASTOMA | CHILDREN
Journal Article
Clinical Genetics, ISSN 0009-9163, 03/2014, Volume 85, Issue 3, pp. 278 - 281
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 5/2018, Volume 38, Issue 4, pp. 471 - 474
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10875-018-0515-x 
Medical Microbiology | Biomedicine | Immunology | germline mosaicism | Slavic family | Infectious Diseases | Internal Medicine | multiple autoimmunity | LRBA homozygous mutation | GONADAL MOSAICISM | IMMUNE DYSREGULATION | AUTOIMMUNITY | DISEASE | PATIENT | IMMUNOLOGY | STEM-CELL TRANSPLANTATION | DEFICIENCY | Autoimmunity | Genomics | Genetic aspects | Mosaicism
Journal Article
Journal Article
Seminars in Pediatric Surgery, ISSN 1055-8586, 10/2019, Volume 28, Issue 5, p. 150841
Individuals born on the spectrum of genetic abnormalities known as mixed gonadal dysgenesis (MGD) have a wide range of anatomical findings and management can... 
Mosaicism | Mixed gonadal dysgenesis | Chromosomal abnormality | Gonads | Malignancy risk | Gonadectomy | SURGERY | DIAGNOSIS | GERM-CELL TUMORS | 45,X/46,XY MOSAICISM | DISORDERS | OVARIAN CONSERVATION | ANDROGEN INSENSITIVITY SYNDROME | WOMEN | Y-CHROMOSOME | SEX DEVELOPMENT | PEDIATRICS | GONADOBLASTOMA
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019, Volume 179, Issue 10, pp. 2119 - 2123
The importance of gonadal mosaicism in families with apparently de novo mutations is being increasingly recognized. We report on two affected brothers... 
Malan syndrome | somatic mosaicism | gonadal mosaicism | NFIX | de novo recurrence | GENETICS & HEREDITY | MUTATIONS | Mosaicism | Heredity | Genetic counseling | Sperm | Somatic cells | Saliva
Journal Article