X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
cartilage-hair hypoplasia (188) 188
humans (150) 150
index medicus (93) 93
mutation (60) 60
female (59) 59
male (57) 57
genetics & heredity (52) 52
child (42) 42
osteochondrodysplasias - genetics (42) 42
immunodeficiency (39) 39
animals (38) 38
immunology (36) 36
pediatrics (35) 35
hair - abnormalities (34) 34
immunologic deficiency syndromes - genetics (34) 34
endoribonucleases - genetics (33) 33
infant (33) 33
child, preschool (30) 30
mutations (30) 30
rna (28) 28
syndrome (27) 27
osteochondrodysplasias - congenital (26) 26
cartilage hair hypoplasia (25) 25
rmrp (25) 25
dysplasia (24) 24
genetic aspects (23) 23
saccharomyces-cerevisiae (23) 23
biochemistry & molecular biology (22) 22
phenotype (22) 22
rnase mrp (22) 22
gene (21) 21
hirschsprung disease - genetics (21) 21
molecular sequence data (21) 21
radiography (21) 21
adolescent (20) 20
article (20) 20
disease (20) 20
osteochondrodysplasias - diagnosis (20) 20
adult (19) 19
hematology (19) 19
allergy (18) 18
base sequence (18) 18
cell biology (17) 17
cell-cycle progression (17) 17
ribonuclease (17) 17
anemia (16) 16
cartilage (16) 16
genes (16) 16
immunologic deficiency syndromes - diagnosis (16) 16
osteochondrodysplasias - immunology (16) 16
endoribonucleases - metabolism (15) 15
hair (15) 15
severe combined immunodeficiency (15) 15
chondrodysplasia (14) 14
dwarfism (14) 14
genetics (14) 14
hypoplasia (14) 14
immunologic deficiency syndromes - immunology (14) 14
infant, newborn (14) 14
proteins (14) 14
research (14) 14
ribosomal-rna (14) 14
transplantation (14) 14
allergy and immunology (13) 13
deficiency (13) 13
diamond-blackfan anemia (13) 13
growth (13) 13
immunologic deficiency syndromes - pathology (13) 13
metaphyseal chondrodysplasia (13) 13
osteochondrodysplasias - pathology (13) 13
abridged index medicus (12) 12
cartilage‐hair hypoplasia (12) 12
hair - pathology (12) 12
immunologic deficiency syndromes - complications (12) 12
manifestations (12) 12
mice (12) 12
analysis (11) 11
cancer (11) 11
osteochondrodysplasias - complications (11) 11
rmrp gene (11) 11
rna processing (11) 11
short stature (11) 11
skeletal dysplasia (11) 11
t cells (11) 11
bone-marrow-transplantation (10) 10
cartilage diseases - genetics (10) 10
cell cycle (10) 10
children (10) 10
common variable immunodeficiency (10) 10
health aspects (10) 10
immunity (10) 10
lymphocytes (10) 10
osteochondrodysplasias - diagnostic imaging (10) 10
protein binding (10) 10
rna, long noncoding - genetics (10) 10
rna, untranslated - genetics (10) 10
shwachman-diamond-syndrome (10) 10
chronic granulomatous-disease (9) 9
dna mutational analysis (9) 9
dwarfism - genetics (9) 9
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Clinical Genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 204 - 207
Journal Article
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 8/2017, Volume 37, Issue 6, pp. 508 - 510
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10875-017-0408-4 
Medical Microbiology | Infectious Diseases | Internal Medicine | Biomedicine | Immunology | BROAD-SPECTRUM | IMMUNOLOGY | Autoimmunity | Autoantibodies | Immunodeficiency | Resveratrol | Communicable diseases | Hypoplasia | Hair | Cartilage | Cartilage-hair hypoplasia
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 4, pp. 847 - 853
Background Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by short-limbed skeletal dysplasia. Some patients also have... 
Allergy and Immunology | primary immunodeficiency | granulomatous inflammation | Cartilage-hair hypoplasia | progressive multifocal leukoencephalopathy | anti–TNF-α mAb therapy | infliximab | anti-TNF-α mAb therapy | anti-TNF-alpha mAb therapy | RAG MUTATIONS | CROHNS-DISEASE | BONE-MARROW-TRANSPLANTATION | COMMON VARIABLE IMMUNODEFICIENCY | IMMUNE-DEFICIENCY | IMMUNOLOGY | CASEATING CUTANEOUS GRANULOMAS | TUMOR-NECROSIS-FACTOR | INFECTIOUS-DISEASES | ALLERGY | ATAXIA-TELANGIECTASIA | Immunologic Deficiency Syndromes - pathology | Inflammation - pathology | Leukoencephalopathy, Progressive Multifocal - therapy | Osteochondrodysplasias - pathology | Hair - abnormalities | Dermatitis - immunology | Humans | Antibodies, Monoclonal - adverse effects | Child, Preschool | Male | Granuloma - therapy | Transplantation, Homologous | Hirschsprung Disease - immunology | Tumor Necrosis Factor-alpha - immunology | Female | Retrospective Studies | Immunologic Deficiency Syndromes - immunology | Child | Antibodies, Monoclonal - immunology | Leukoencephalopathy, Progressive Multifocal - immunology | Immunologic Deficiency Syndromes - therapy | Hair - pathology | Osteochondrodysplasias - immunology | Risk Factors | Hirschsprung Disease - pathology | Hematopoietic Stem Cell Transplantation | Inflammation - immunology | Hair - immunology | Dermatitis - pathology | Dermatitis - therapy | Granuloma - pathology | Inflammation - therapy | Antibodies, Monoclonal - administration & dosage | Osteochondrodysplasias - congenital | Hirschsprung Disease - therapy | Granuloma - immunology | Leukoencephalopathy, Progressive Multifocal - pathology | Osteochondrodysplasias - therapy | Tumor Necrosis Factor-alpha - antagonists & inhibitors
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 4, pp. 1120 - 1129.e1
Background Mutations in the long noncoding RNA RNase component of the mitochondrial RNA processing endoribonuclease (RMRP) give rise to the autosomal recessive... 
Allergy and Immunology | cartilage-hair hypoplasia | Primary immune deficiency | telomere length | mitochondrial RNA processing endoribonuclease | lymphocyte | Telomere length | Cartilage-hair hypoplasia | Lymphocyte | Mitochondrial RNA processing endoribonuclease | CELLS | ABNORMALITIES | LENGTH | AMISH | IMMUNOLOGY | CANCER | ALLERGY | RNASE-MRP | cartilagehair hypoplasia | MUTATIONS | CYCLE | Cell Proliferation | Hair - abnormalities | Humans | Middle Aged | Hirschsprung Disease - genetics | Child, Preschool | Infant | Male | Dyskeratosis Congenita - genetics | Hirschsprung Disease - immunology | Young Adult | Lymphocytes - physiology | Osteochondrodysplasias - genetics | Adult | Female | Immunologic Deficiency Syndromes - immunology | Child | Telomere - genetics | Osteochondrodysplasias - immunology | Lymphocyte Activation | Cells, Cultured | Computational Biology | RNA, Long Noncoding - genetics | Mutation - genetics | Hair - immunology | Telomere Homeostasis | Osteochondrodysplasias - congenital | Pedigree | Adolescent | Immunologic Deficiency Syndromes - genetics | Telomeres | Medical colleges | Lymphocytes | Antisense RNA | Genetic aspects | Ribonuclease | Telomerase | Nucleases | Immunodeficiency | Gene expression | Flow cytometry | Telomerase reverse transcriptase | RNA-directed DNA polymerase | Transplants & implants | Transcription | Homeostasis | Blood | Cartilage | Genotype & phenotype | Mitochondria | Granulocytes | Catalysis | RNA processing | Deoxyribonucleic acid--DNA | Immune system | Hair | Hypoplasia | Dyskeratosis | Antigens | Cell division | Cultures | Ribonucleic acid--RNA | Patients | Cytometry | Cell lines | Mutation
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 537 - 540
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 2, pp. 612 - 614.e5
Clinical features of the 7 subjects with SAD included rhinosinusitis (n = 6), otitis media (n = 5), warts (n = 3), malignancies (n = 3; lymphoma, basal cell... 
Allergy and Immunology | ANTIBODIES | COMMON VARIABLE IMMUNODEFICIENCY | IMMUNOLOGY | ALLERGY | DEFICIENCY | TRANSPLANTATION | Osteochondrodysplasias - immunology | Hair - abnormalities | Humans | Immunophenotyping | Osteochondrodysplasias - diagnosis | Hair - immunology | Immunity | Lymphocyte Subsets - immunology | Hirschsprung Disease - immunology | Hirschsprung Disease - diagnosis | Lymphocyte Subsets - metabolism | Phenotype | Osteochondrodysplasias - congenital | Finland | Biomarkers | Adult | Immunologic Memory | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Child | Cohort Studies | Transplants & implants | Laboratories | CD8 antigen | Immunoglobulin G | Chicken pox | Antibodies | Viruses | Transplantation | Lymphocytes T | Infections | Vaccines | Immunoglobulin A | Thymus | Cartilage | Genotype & phenotype | Uterus | Lymphocytes | Cell cycle | Varicella | Bone marrow | Children | Age | Hair | Hypoplasia | Immunoglobulins | CD19 antigen | Anemia | Mortality | Abnormalities | Neutrophils | Immunodeficiency | Leukocytes (neutrophilic) | CD3 antigen | Patients | Lymphoma | Hemopoiesis | CD4 antigen | Studies | Cartilage-hair hypoplasia | Stem cells | Otitis media | Adults | Mutation | Tetanus | immunoglobulin subclasses | humoral immunodeficiency | memory B cells | varicella | combined immunodeficiency | RMRP | specific antibody deficiency
Journal Article
Journal Article
Journal of Children's Orthopaedics, ISSN 1863-2521, 4/2015, Volume 9, Issue 2, pp. 145 - 152
Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish... 
Pathoanatomy | Pediatrics | Medicine & Public Health | Orthopedics | Traumatic Surgery | McKusick-type metaphyseal chondrodysplasia | Cartilage hair hypoplasia | PEDIATRICS | ORTHOPEDICS | Original Clinical
Journal Article
Swiss Medical Weekly, ISSN 1424-7860, 04/2018, Volume 148, Issue 17-18, p. w14606
Cartilage hair hypoplasia (CHH) is a rare autosomal recessive ribosomopathy characterised by skeletal and integumentary system manifestations. It may also... 
Ribosomopathy | Secondary immune deficiency | Lymphoproliferative disorder | Primary immune deficiency | Cartilage hair hypoplasia | ribosomopathy | MEDICINE, GENERAL & INTERNAL | lymphoproliferative disorder | primary immune deficiency | cartilage hair hypoplasia | secondary immune deficiency | FOLLOW-UP | CHILD | TRANSPLANTATION
Journal Article
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 9/2016, Volume 83, Issue 9, pp. 1003 - 1005
Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by short stature, metaphyseal dysplasia, hypotrichosis and immunodeficiency. More... 
Pediatrics | Medicine & Public Health | Cartilage-hair hypoplasia | Gynecology | RMRP | PEDIATRICS | RNA | Cartilage | Hair - pathology | Osteochondrodysplasias - genetics | Humans | Child, Preschool | Male | RNA, Long Noncoding - genetics | Mutation | Osteochondrodysplasias - diagnosis | Child | Endoribonucleases | India | Dysplasia | Genetic aspects | Genes | College graduates | Medical genetics
Journal Article