scholarly article | Q13442814 |
P50 | author | Anita Rauch | Q21253643 |
Geert Mortier | Q28354336 | ||
Richard Redon | Q34445681 | ||
Cédric Le Caignec | Q47261785 | ||
Maria Bitner-Glindzicz | Q56725380 | ||
Alain Verloes | Q64955175 | ||
P2093 | author name string | Albert David | |
Cornelia Kraus | |||
Dominique Heymann | |||
Bertrand Isidor | |||
Olivier Pichon | |||
Antoine Hamel | |||
Debra Day-Salvatore | |||
Jules G Leroy | |||
Karolina A Siwicka | |||
Lena Kjellén | |||
P2860 | cites work | Secreted sulfatases Sulf1 and Sulf2 have overlapping yet essential roles in mouse neonatal survival | Q21144445 |
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome | Q24300737 | ||
QSulf1 remodels the 6-O sulfation states of cell surface heparan sulfate proteoglycans to promote Wnt signaling | Q24675509 | ||
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) | Q24682812 | ||
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method | Q25938999 | ||
The mechanism of human nonhomologous DNA end joining | Q28257187 | ||
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders | Q28262802 | ||
Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development | Q28512642 | ||
Genome architecture, rearrangements and genomic disorders | Q29614721 | ||
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations | Q33766816 | ||
Domain-specific modification of heparan sulfate by Qsulf1 modulates the binding of the bone morphogenetic protein antagonist Noggin | Q34279840 | ||
Receptor activator of nuclear factor kappaB ligand (RANKL)/osteoprotegerin (OPG) ratio is increased in severe osteolysis | Q35843398 | ||
QSulf1, a heparan sulfate 6-O-endosulfatase, inhibits fibroblast growth factor signaling in mesoderm induction and angiogenesis | Q37415156 | ||
The tumor suppressor function of human sulfatase 1 (SULF1) in carcinogenesis. | Q37448200 | ||
Interleukin-6 inhibits receptor activator of nuclear factor kappaB ligand-induced osteoclastogenesis by diverting cells into the macrophage lineage: key role of Serine727 phosphorylation of signal transducer and activator of transcription 3. | Q39993181 | ||
Downregulation of osteoblast markers and induction of the glial fibrillary acidic protein by oncostatin M in osteosarcoma cells require PKCdelta and STAT3. | Q40505562 | ||
Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome? | Q41926026 | ||
Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome | Q49031358 | ||
A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach. | Q51933948 | ||
Kantaputra mesomelic dysplasia: a second reported family. | Q52089020 | ||
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: Follow-up study documents progressive clinical course | Q55738730 | ||
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases | Q57249752 | ||
Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis | Q57926353 | ||
Specific acromesomelia with facial and renal anomalies: a new syndrome | Q72204740 | ||
Nosology and classification of genetic skeletal disorders: 2006 revision | Q79375682 | ||
Heparan sulfate structure in mice with genetically modified heparan sulfate production | Q80413581 | ||
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | mesomelia-synostoses syndrome | Q20828586 |
P304 | page(s) | 95-100 | |
P577 | publication date | 2010-06-17 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. | |
P478 | volume | 87 |