X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (121) 121
index medicus (121) 121
genetics & heredity (75) 75
female (70) 70
facial-digital syndrome (67) 67
male (62) 62
oral-facial-digital syndrome (56) 56
orofaciodigital syndromes - genetics (42) 42
mutation (31) 31
syndrome (31) 31
adult (27) 27
orofaciodigital syndromes - pathology (27) 27
infant (26) 26
phenotype (25) 25
infant, newborn (23) 23
polydactyly (23) 23
polycystic kidney-disease (22) 22
child (20) 20
mohr syndrome (20) 20
orofaciodigital syndrome (20) 20
abnormalities, multiple - genetics (19) 19
orofaciodigital syndromes - diagnosis (19) 19
proteins - genetics (19) 19
animals (18) 18
pediatrics (18) 18
child, preschool (17) 17
genetic aspects (17) 17
ofd1 (16) 16
syndrome type-i (16) 16
adolescent (15) 15
expression (15) 15
gene (15) 15
bardet-biedl-syndrome (14) 14
primary cilia (14) 14
radiography (14) 14
dentistry (13) 13
genetics (13) 13
pregnancy (13) 13
abnormalities, multiple - pathology (12) 12
cleft palate (12) 12
diagnosis (12) 12
disease (12) 12
genes (12) 12
joubert syndrome (12) 12
stomatognathic diseases (12) 12
surgery (12) 12
anomalies (11) 11
article (11) 11
ciliopathies (11) 11
face - abnormalities (11) 11
multiple abnormalities (11) 11
mutations (11) 11
orofaciodigital syndromes - complications (11) 11
orofaciodigital syndromes - diagnostic imaging (11) 11
pedigree (11) 11
diagnosis, differential (10) 10
fetus (10) 10
orofaciodigital syndromes - classification (10) 10
patient (10) 10
polydactyly - pathology (10) 10
cell biology (9) 9
cilia - metabolism (9) 9
cleft palate - genetics (9) 9
dentistry, oral surgery & medicine (9) 9
facial-digital syndromes (9) 9
genes, recessive (9) 9
kidney diseases, cystic - genetics (9) 9
magnetic resonance imaging (9) 9
malformations (9) 9
mohr (9) 9
oro-facial-digital syndrome (9) 9
polydactyly - genetics (9) 9
proteins (9) 9
abnormalities, multiple - diagnosis (8) 8
biochemistry & molecular biology (8) 8
cerebellum - abnormalities (8) 8
cilia (8) 8
ciliopathy (8) 8
joubert-syndrome (8) 8
medicine (8) 8
oral‐facial‐digital syndrome (8) 8
pathology (8) 8
prenatal diagnosis (8) 8
brain - abnormalities (7) 7
cilia - pathology (7) 7
ciliopathies - genetics (7) 7
developmental biology (7) 7
fingers - abnormalities (7) 7
genetic research (7) 7
i syndrome (7) 7
meckel-gruber-syndrome (7) 7
mice (7) 7
molar tooth sign (7) 7
mouth abnormalities - genetics (7) 7
oral (7) 7
oral-facial-digital (7) 7
oral-facial-digital syndrome type 1 (7) 7
oral-facial-digital syndrome type vi (7) 7
orofaciodigital syndromes - physiopathology (7) 7
pallister-hall syndrome (7) 7
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


European Journal of Medical Genetics, ISSN 1769-7212, 10/2018, Volume 61, Issue 10, pp. 585 - 595
Journal Article
Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 10, pp. 1142 - 1154
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2018, Volume 93, Issue 6, pp. 1205 - 1209
Oral‐facial‐digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co‐occurrence of hamartomas and/or multiple frenula of the oral region... 
NGS | oral‐facial‐digital syndrome | INTU | CPLANE | oral-facial-digital syndrome | REGULATOR | GENETICS & HEREDITY | Multiple abnormalities | Congenital heart disease | Cerebellum | Neuroimaging | Phenotypes | Polydactyly | Teeth | Single-nucleotide polymorphism | Heredity | Neoplasia | Life Sciences | Genetics | Human genetics
Journal Article
Nigerian Journal of Clinical Practice, ISSN 1119-3077, 06/2019, Volume 22, Issue 6, pp. 872 - 876
Papillon-Leage-Psaume Syndrome, also known as oral-facial-digital syndrome (OFDS) type I, describes a group of neurodevelopmental disorders that are... 
oral-facial-digital syndrome Type I | Cleft palate | Papillon-Leáge psaume syndrome | MEDICINE, GENERAL & INTERNAL | Papillon-Leage psaume syndrome | DIGITAL SYNDROME TYPE-1 | Case studies | Care and treatment | Multiple abnormalities | Methods | Oral surgery | Index Medicus
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 4 - 4
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report... 
Joubert syndrome and related disorders | neuroimaging; molar tooth sign | cerebellar malformation | Oral-facial-digital syndrome type VI | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | VARADI-SYNDROME | SYNDROME-RELATED DISORDERS | HYPOTHALAMIC HAMARTOMA | FOLLOW-UP | neuroimaging | JOUBERT-SYNDROME | PSYCHOMOTOR RETARDATION | HIRSCHSPRUNG-DISEASE | molar tooth sign | OROFACIODIGITAL-SYNDROME | Abnormalities, Multiple - pathology | Kidney Diseases, Cystic - classification | Kidney Diseases, Cystic - diagnosis | Cerebellar Diseases - classification | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Male | Polydactyly - diagnosis | Cerebellum - abnormalities | Young Adult | Cerebellar Diseases - pathology | Kidney Diseases, Cystic - genetics | Adult | Female | Child | Orofaciodigital Syndromes - classification | Infant, Newborn | Neuroimaging - methods | Eye Abnormalities - diagnosis | Cerebellar Diseases - diagnosis | Eye Abnormalities - classification | Orofaciodigital Syndromes - genetics | Eye Abnormalities - genetics | Kidney Diseases, Cystic - pathology | Orofaciodigital Syndromes - pathology | Phenotype | Cerebellar Diseases - genetics | Eye Abnormalities - pathology | Abnormalities, Multiple - diagnosis | Adolescent | Retina - abnormalities | Retina - pathology | Orofaciodigital Syndromes - diagnosis | Polydactyly - pathology | Neuroimaging | Usage | Genetic aspects | Diagnosis | Research | Multiple abnormalities | Health aspects | Risk factors | Index Medicus
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 2019, Volume 179, Issue 6, pp. 1010 - 1014
Orofaciodigital syndrome type I and X-linked recessive Joubert syndrome are known ciliopathic disorders that are caused by pathogenic variants in OFD1 gene.... 
OFD1 | Orofaciodigital syndrome | molar tooth sign | pituitary aplasia | Joubert syndrome | PROTEIN | GENE | GENETICS & HEREDITY | FACIAL-DIGITAL SYNDROMES | MUTATIONS | PHENOTYPIC SPECTRUM | GLAND | Hypoplasia | Brain | Aplasia | Endocrine system | Congenital defects | Pituitary | Pituitary gland | Endocrine glands | Neurodevelopmental disorders
Journal Article
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 367 - 377
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2016, Volume 90, Issue 6, pp. 509 - 517
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2014, Volume 9, Issue 1, pp. 74 - 74
Journal Article