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Epilepsia, ISSN 0013-9580, 10/2011, Volume 52, Issue 10, pp. 1820 - 1827
Journal Article
Pigment Cell & Melanoma Research, ISSN 1755-1471, 07/2018, Volume 31, Issue 4, pp. 466 - 474
Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and... 
mutations | deletions | albinism | next‐generation sequencing | next-generation sequencing | PANEL | OCULOCUTANEOUS ALBINISM | FOVEAL HYPOPLASIA | TYR | IDENTIFICATION | LOCUS | CELL BIOLOGY | DERMATOLOGY | TYROSINASE GENE | ONCOLOGY | CONGENITAL NYSTAGMUS | PHOTOPHOBIA | Albinism | Analysis | Hypoplasia | Phenotypes | Nystagmus | Nerves | Hybridization | Diagnosis | Pigmentation | Patients | Genotypes | Molecular chains | Gene sequencing | Index Medicus
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 03/2019, Volume 36, Issue 2, pp. 260 - 261
We report a 6‐month‐old girl born with a fronto‐parietal patch of hair straighter than the remainder of the scalp hairs. We took a biopsy to rule out a... 
mosaic | hair disorders | PEDIATRICS | DERMATOLOGY | Hair Diseases - pathology | Hair - pathology | Microscopy, Electron, Scanning | Humans | Nevus, Pigmented - diagnosis | Female | Infant | Mosaicism | Hair Diseases - diagnosis | Mole (Dermatology) | Hair | Scanning electron microscopy | Phenotypes | Biopsy | Scalp | Nevus | Index Medicus
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 03/2018, Volume 63, Issue 3, pp. 257 - 261
The focal facial dermal dysplasias (FFDDs) are a group of rare inherited developmental disorders characterized by congenital scar-like atrophic lesions in the... 
FRAMESHIFT MUTATION | SETLEIS SYNDROME | GENETICS & HEREDITY
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 2019, Volume 179, Issue 6, pp. 1030 - 1033
PUM1 has been very recently reported as responsible for a new form of developmental disorder named PADDAS syndrome. We describe here an additional patient with... 
hair dysplasia | PUM1 | whole-exome sequencing | intellectual disability | MUTATION | GENETICS & HEREDITY | NEURODEGENERATION | Dysplasia | Epilepsy | Hair | Microencephaly
Journal Article
Presse Medicale, ISSN 0755-4982, 07/2017, Volume 46, Issue 7-8, pp. 648 - 654
Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy.... 
Journal Article
La Presse Médicale, ISSN 0755-4982, 07/2017, Volume 46, Issue 7-8, pp. 648 - 654
L’albinisme est une affection génétique touchant environ 1/17 000 personnes à travers le monde, et constitue la deuxième cause la plus fréquente de perte... 
Journal Article
Pigment Cell & Melanoma Research, ISSN 1755-1471, 03/2018, Volume 31, Issue 2, pp. 318 - 329
Albinism is a rare genetic disease, comprising syndromic and non‐syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation... 
pigmentation | genetics | oculocutaneous albinism | VISUAL-ACUITY | OCA3 | FOVEAL HYPOPLASIA | CLINICAL CHARACTERIZATION | CELL BIOLOGY | DERMATOLOGY | ONCOLOGY | PUDLAK-SYNDROME TYPE-5 | MUTATIONS | SKIN-CANCER | TYRP1 GENE | Clinics | Albinism | Gene mutations | Analysis | Hair | Phenotypes | Skin | Ocular albinism | Adults | Children | Mutation | Pigmentation | Patients | Genotypes | Visually handicapped people | Index Medicus
Journal Article
Journal Article
by Jacquemont, S and Reymond, A and Zufferey, F and Harewood, L and Walters, R.G and Kutalik, Z and Martinet, D and Shen, Y and Valsesia, A and Beckmann, N.D and Thorleifsson, G and Belfiore, M and Bouquillon, S and Campion, D and Leeuw, N. de and Vries, L.B.A. de and Esko, T and Fernandez, B.A and Fernandez-Aranda, F and Fernandez-Real, J.M and Gratacos, M and Guilmatre, A and Hoyer, J and Jarvelin, M.R and Kooy, R.F and Kurg, A and Caignec, C. Le and Mannik, K and Platt, O.S and Sanlaville, D and Haelst, M.M. van and Villatoro Gomez, S and Walha, F and Wu, B.L and Yu, Y and Aboura, A and Addor, M.C and Alembik, Y and Antonarakis, S.E and Arveiler, B and Barth, M and Bednarek, N and Bena, F and Bergmann, S and Beri, M and Bernardini, L and Blaumeiser, B and Bonneau, D and Bottani, A and Boute, O and Brunner, H.G and Cailley, D and Callier, P and Chiesa, J and Chrast, J and Coin, L and Coutton, C and Cuisset, J.M and Cuvellier, J.C and David, A and Freminville, B. de and Delobel, B and Delrue, M.A and Demeer, B and Descamps, D and Didelot, G and Dieterich, K and Disciglio, V and Doco-Fenzy, M and nat, S and Duban-Bedu, B and Dubourg, C and El-Sayed Moustafa, J.S and Elliott, P and Faas, B.H.W and Faivre, L and Faudet, A and Fellmann, F and Ferrarini, A and Fisher, R and Flori, E and Forer, L and Gaillard, D and Gerard, M and Gieger, C and Gimelli, S and Gimelli, G and Grabe, H.J and Guichet, A and Guillin, O and Hartikainen, A.L and Heron, D and Hippolyte, L and Holder, M and Homuth, G and Isidor, B and Jaillard, S and Jaros, Z and Jimenez-Murcia, S and Helas, G.J and ...
Nature, ISSN 0028-0836, 2011, Volume 478, Issue 7367, pp. 97 - 102
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) DEPENDENT PROBE AMPLIFICATION | FAILURE-TO-THRIVE | METABOLIC SYNDROME | RELATIVE QUANTIFICATION | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | TIME QUANTITATIVE PCR | COPY NUMBER VARIATION | CIRCULAR BINARY SEGMENTATION | Humans | Middle Aged | Child, Preschool | RNA, Messenger - analysis | Head - anatomy & histology | Infant | Male | Developmental Disabilities - genetics | Gene Expression Profiling | North America | Obesity - genetics | Case-Control Studies | Young Adult | Mental Disorders - genetics | Aging | Gene Duplication - genetics | Adult | Female | Transcription, Genetic | Energy Metabolism - genetics | Child | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics | Body Mass Index | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Europe | RNA, Messenger - genetics | Mutation - genetics | Body Height - genetics | Thinness - genetics | Phenotype | Comparative Genomic Hybridization | Adolescent | Heterozygote | Aged | Cohort Studies | Sequence Deletion - genetics | Obesity | Chromosome mapping | Usage | Genetic variation | Genetic aspects | Cognition disorders | Research | Risk factors | Schizophrenia | Gender | Behavior | Gene expression | Bias | Index Medicus | Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Gene Duplication | Developmental Disabilities | Sequence Deletion | Thinness | genetics | Genetic Predisposition to Disease | Head | Gene Dosage | analysis | Energy Metabolism | Mental Disorders | Chromosomes, Human, Pair 16 | Body Height | Mutation | anatomy & histology | RNA, Messenger
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 445 - U261
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2015, Volume 10, Issue 10, pp. e0141067 - e0141067
Journal Article
Journal Article