X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (49) 49
index medicus (44) 44
female (38) 38
blepharophimosis - physiopathology (28) 28
male (25) 25
blepharophimosis (24) 24
blepharophimosis - genetics (18) 18
syndrome (16) 16
adult (15) 15
child, preschool (15) 15
genetics & heredity (15) 15
abnormalities, multiple - physiopathology (14) 14
child (14) 14
blepharoptosis - physiopathology (12) 12
eyelids - abnormalities (12) 12
ophthalmology (12) 12
adolescent (11) 11
mutation (11) 11
ptosis (10) 10
abnormalities, multiple - genetics (9) 9
forkhead box protein l2 (9) 9
forkhead transcription factors - genetics (9) 9
foxl2 (9) 9
blepharophimosis - surgery (8) 8
diagnosis (8) 8
intellectual disability - physiopathology (8) 8
infant (7) 7
infant, newborn (7) 7
mutations (7) 7
phenotype (7) 7
skin abnormalities - genetics (7) 7
animals (6) 6
blepharoptosis - genetics (6) 6
face - abnormalities (6) 6
gene (6) 6
premature ovarian failure (6) 6
skin abnormalities - physiopathology (6) 6
abridged index medicus (5) 5
blepharoptosis (5) 5
endocrinology & metabolism (5) 5
eye diseases (5) 5
mental retardation (5) 5
oculomotor muscles - physiopathology (5) 5
ovary - physiopathology (5) 5
pedigree (5) 5
surgery (5) 5
transcription factor foxl2 (5) 5
visual acuity (5) 5
blepharophimosis - complications (4) 4
blepharophimosis - diagnosis (4) 4
blepharoptosis - surgery (4) 4
bpes (4) 4
care and treatment (4) 4
case studies (4) 4
cataract (4) 4
chromosomes, human, pair 3 (4) 4
craniofacial abnormalities - physiopathology (4) 4
diagnosis, differential (4) 4
eye (4) 4
forkhead transcription factors - metabolism (4) 4
magnetic resonance imaging (4) 4
middle aged (4) 4
oculomotor muscles - surgery (4) 4
primary ovarian insufficiency - genetics (4) 4
primary ovarian insufficiency - physiopathology (4) 4
retrospective studies (4) 4
risk factors (4) 4
syndrome bpes (4) 4
urogenital abnormalities - genetics (4) 4
urogenital abnormalities - physiopathology (4) 4
analysis (3) 3
arachnodactyly - physiopathology (3) 3
blepharophimosis - metabolism (3) 3
blepharoptosis - congenital (3) 3
brief communications (3) 3
cell biology (3) 3
chromosome deletion (3) 3
chromosomes, human, pair 3 - genetics (3) 3
contracture - physiopathology (3) 3
developmental disabilities - genetics (3) 3
developmental disabilities - physiopathology (3) 3
electromyography (3) 3
epicanthus inversus (3) 3
epicanthus inversus syndrome (3) 3
eye movements - physiology (3) 3
eyelid diseases (3) 3
facies (3) 3
genetic association studies (3) 3
genetic disorders (3) 3
glaucoma (3) 3
heart defects, congenital - genetics (3) 3
intellectual disability - genetics (3) 3
intraocular lens (3) 3
life sciences (3) 3
mice (3) 3
mutation, missense (3) 3
ophthalmologic surgical procedures (3) 3
optical coherence tomography (3) 3
phacoemulsification (3) 3
treatment outcome (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 455 - 459
KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome... 
skeletal anomalies | related disorders | KAT6B | focused exome sequencing | KAT6B-related disorders | RETARDATION | GENETICS & HEREDITY | HISTONE ACETYLTRANSFERASE | MUTATIONS | PHENOTYPIC SPECTRUM | Patella - physiopathology | Scrotum - abnormalities | Scrotum - physiopathology | Exons | Humans | Joint Instability - genetics | Histone Acetyltransferases - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Female | Psychomotor Disorders - physiopathology | Urogenital Abnormalities - physiopathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Kidney - physiopathology | Haploinsufficiency - genetics | Genetic Association Studies | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Kidney - abnormalities | Alleles | Heart Defects, Congenital - physiopathology | Mutation | Joint Instability - physiopathology | Blepharophimosis - physiopathology | Urogenital Abnormalities - genetics | Medical genetics | Intellectual disabilities | Genotypes | Haploinsufficiency | Index Medicus
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial... 
BLEPHAROPHIMOSIS | LIGASE UBE3B | MUTATIONS | GENE | OCULOCEREBROFACIAL SYNDROME | GENETICS & HEREDITY | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 3063 - 3071
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2011, Volume 54, Issue 6, pp. e542 - e547
Abstract Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of... 
Medical Education | Genetic | Congenital | Hydrocephalus | L1CAM | Etiology | SWEDEN | INFANTILE HYDROCEPHALUS | CLASSIFICATION | CILIA | CHILDREN | ORIGIN | MUTATION | GENETICS & HEREDITY | VACTERL | MALFORMATION | EPIDEMIOLOGY | Walker-Warburg Syndrome - diagnosis | Humans | Neural Cell Adhesion Molecule L1 - genetics | Walker-Warburg Syndrome - physiopathology | Child, Preschool | Infant | Male | Walker-Warburg Syndrome - genetics | Contracture - genetics | DNA Copy Number Variations | Arachnodactyly - diagnosis | Blepharophimosis - genetics | Netherlands | Hydrocephalus - physiopathology | Karyotyping | Arachnodactyly - genetics | Blepharophimosis - diagnosis | Chromosome Disorders - diagnosis | Female | Retrospective Studies | Hydrocephalus - classification | Hydrocephalus - genetics | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Contracture - physiopathology | Connective Tissue Diseases - physiopathology | Severity of Illness Index | Arachnodactyly - physiopathology | Hydrocephalus - diagnosis | Connective Tissue Diseases - diagnosis | Gene Dosage | Abnormalities, Multiple - physiopathology | Phenotype | Contracture - diagnosis | Abnormalities, Multiple - diagnosis | Chromosome Aberrations | Connective Tissue Diseases - genetics | Polymorphism, Single Nucleotide | Blepharophimosis - physiopathology | Chromosome Disorders - genetics | Genetic research | Development and progression | Genetic disorders | Diagnosis | Developmental biology | Index Medicus
Journal Article
Journal Article
Gene, ISSN 0378-1119, 07/2019, Volume 706, pp. 62 - 68
Journal Article
Journal of Endocrinological Investigation, ISSN 0391-4097, 2/2016, Volume 39, Issue 2, pp. 227 - 233
Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically... 
Ovarian dysfunction | Genetic counseling | Medicine & Public Health | Metabolic Diseases | Blepharophimosis–ptosis–epicanthus inversus syndrome | FOXL2 | Genotype–phenotype correlation | Medicine/Public Health, general | Endocrinology | Blepharophimosis-ptosis-epicanthus inversus syndrome | Genotype-phenotype correlation | FORKHEAD TRANSCRIPTION | TRANSCRIPTION FACTOR FOXL2 | WOMAN | BPES PATIENTS | PREMATURE OVARIAN INSUFFICIENCY | GENE | TRANSACTIVATION | ENDOCRINOLOGY & METABOLISM | MUTATIONS | DYSFUNCTION | AGGREGATION | Gene Duplication | Skin Abnormalities - surgery | Humans | Eyelids - abnormalities | Mutation, Missense | Hormone Replacement Therapy | Young Adult | Blepharophimosis - genetics | DNA Mutational Analysis | Amenorrhea - etiology | Adult | Female | Ovary - drug effects | Blepharophimosis - surgery | Skin Abnormalities - drug therapy | Urogenital Abnormalities - physiopathology | Urogenital Abnormalities - drug therapy | Forkhead Box Protein L2 | Blepharophimosis - drug therapy | Skin Abnormalities - physiopathology | Genetic Association Studies | Combined Modality Therapy | Forkhead Transcription Factors - genetics | Amenorrhea - prevention & control | Menarche - drug effects | Urogenital Abnormalities - surgery | Pedigree | Italy | Primary Ovarian Insufficiency - prevention & control | Skin Abnormalities - genetics | Primary Ovarian Insufficiency - etiology | Blepharophimosis - physiopathology | Amino Acid Substitution | Ovary - physiopathology | Urogenital Abnormalities - genetics | Index Medicus
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2012, Volume 21, Issue 14, pp. 3264 - 3274
Journal Article
Journal Article