scholarly article | Q13442814 |
case report | Q2782326 |
P50 | author | Donna M. Martin | Q47340885 |
P2093 | author name string | Catherine A Downs | |
David J Brown | |||
Elizabeth M Petty | |||
Jeff M Milunsky | |||
Marci M Lesperance | |||
Peter J Strouse | |||
Sayoko E Moroi | |||
Theresa B Kim | |||
P2860 | cites work | Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis | Q22009041 |
Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding | Q24291700 | ||
The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4 | Q24315313 | ||
Identification of mammalian noggin and its expression in the adult nervous system | Q24337234 | ||
BMP4 is essential for lens induction in the mouse embryo | Q24595509 | ||
Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite | Q24602347 | ||
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome | Q28201541 | ||
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism | Q28202907 | ||
Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton | Q28272018 | ||
A DNA polymorphism discovery resource for research on human genetic variation | Q28292727 | ||
Developmental expression patterns of bone morphogenetic proteins, receptors, and binding proteins in the chick retina | Q31909705 | ||
Evolution and classification of cystine knot-containing hormones and related extracellular signaling molecules | Q34236101 | ||
Noggin and retinoic acid transform the identity of avian facial prominences | Q43847132 | ||
Expression cloning of noggin, a new dorsalizing factor localized to the Spemann organizer in Xenopus embryos | Q44061010 | ||
Secreted noggin protein mimics the Spemann organizer in dorsalizing Xenopus mesoderm | Q46061817 | ||
An autosomal dominant inherited syndrome with congenital stapes ankylosis | Q46859724 | ||
Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome | Q48268251 | ||
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. | Q50508787 | ||
Animal-vegetal asymmetries influence the earliest steps in retina fate commitment in Xenopus. | Q51088914 | ||
Bmp4 mediates apoptotic cell death in the developing chick eye. | Q52141585 | ||
A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1 | Q56566320 | ||
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism | Q56607585 | ||
Evolution and Classification of Cystine Knot-Containing Hormones and Related Extracellular Signaling Molecules | Q63214578 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | thumb | Q83360 |
heterozygosity | Q124059385 | ||
P304 | page(s) | 618-624 | |
P577 | publication date | 2002-06-27 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin | |
P478 | volume | 71 |
Q24337747 | A GDF5 point mutation strikes twice--causing BDA1 and SYNS2 |
Q37871531 | A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD). |
Q35946239 | A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. |
Q36099936 | A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder |
Q24318483 | Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2 |
Q37158695 | Association of bone morphogenetic proteins with otosclerosis |
Q33569875 | Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family |
Q38740288 | BMP signalling in skeletal development, disease and repair. |
Q48324427 | Congenital conductive hearing loss and multiple synostosis syndrome with analysis of temporal bone CT scan findings |
Q50435234 | Ear and further anatomic anomalies in children undergoing stapedotomy |
Q58288569 | Expression of bone morphogenetic protein 2, 4, 5, and 7 correlates with histological activity of otosclerotic foci |
Q35008983 | Familial aggregation of hyperopia in an elderly population of siblings in Salisbury, Maryland |
Q34507321 | GDF5 is a second locus for multiple-synostosis syndrome. |
Q24680270 | GDF6, a novel locus for a spectrum of ocular developmental anomalies |
Q37613190 | Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature |
Q37845326 | Mechanisms of digit formation: Human malformation syndromes tell the story |
Q37185997 | Molecular and clinical delineation of the 17q22 microdeletion phenotype |
Q35096113 | Morpho-regulation of ectodermal organs: integument pathology and phenotypic variations in K14-Noggin engineered mice through modulation of bone morphogenic protein pathway |
Q34991546 | Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene |
Q34103873 | Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients. |
Q36494921 | Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis |
Q46151976 | Noggin is required for first pharyngeal arch differentiation in the frog Xenopus tropicalis |
Q28250960 | Role of hindbrain in inner ear morphogenesis: analysis of Noggin knockout mice |
Q37778384 | Signaling Pathways in Human Skeletal Dysplasias |
Q36319692 | Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder |
Q36083442 | Tgf-beta superfamily and mouse craniofacial development: interplay of morphogenetic proteins and receptor signaling controls normal formation of the face. |
Q83106618 | The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects |
Q38784881 | The TGF-β Signalling Network in Muscle Development, Adaptation and Disease. |
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