| scholarly article | Q13442814 |
| P2093 | author name string | P Rutland | |
| S Malcolm | |||
| B M Jones | |||
| R M Winter | |||
| C M Hall | |||
| R Hayward | |||
| R D Evans | |||
| D Wilkes | |||
| L J Pulleyn | |||
| W Reardon | |||
| N C Nevin | |||
| J C Dean | |||
| M Baraister | |||
| P2860 | cites work | Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome | Q24310222 |
| Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome | Q24311679 | ||
| Mutations of the TWIST gene in the Saethre-Chotzen syndrome | Q24311736 | ||
| A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome | Q24314986 | ||
| Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 | Q24315050 | ||
| The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p | Q24514974 | ||
| A simple salting out procedure for extracting DNA from human nucleated cells | Q27861086 | ||
| Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2 | Q28242364 | ||
| A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis | Q28249477 | ||
| Structural and functional diversity in the FGF receptor multigene family | Q28265126 | ||
| Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes | Q28300015 | ||
| Pitfalls of genetic counselling in Pfeiffer's syndrome | Q33668077 | ||
| A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans | Q33677764 | ||
| Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans | Q34289809 | ||
| Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome | Q34308670 | ||
| Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2. | Q34346775 | ||
| Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. | Q35888956 | ||
| Localization of craniosynostosis Adelaide type to 4p16. | Q39375446 | ||
| Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome | Q39425084 | ||
| Saethre-Chotzen syndrome | Q40691648 | ||
| Skeletal dysplasias detectable by DNA analysis | Q41376050 | ||
| The molecular pathology of syndromic craniosynostosis | Q41671709 | ||
| Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes | Q45345152 | ||
| Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity. | Q47650651 | ||
| Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2 | Q56263821 | ||
| A matter of reading English | Q56383866 | ||
| Lumpers, splitters, and FGFRs | Q56383870 | ||
| Craniosynostoses: phenotypic/molecular correlations | Q56384589 | ||
| Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p | Q56387902 | ||
| Saethre-Chotzen syndrome with familial translocation at chromosome 7p22 | Q56389058 | ||
| Newly recognized autosomal dominant disorder with craniosynostosis | Q56391868 | ||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | craniosynostosis | Q378183 |
| P304 | page(s) | 632-636 | |
| P577 | publication date | 1997-08-01 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis | |
| P478 | volume | 34 |
| Q64882717 | 22q and two: 22q11.2 deletion syndrome and coexisting conditions. |
| Q33935360 | A Korean family with the Muenke syndrome |
| Q35829617 | A comprehensive review of the genetic basis of cleft lip and palate |
| Q44729122 | A new mouse limb mutation identifies a Twist allele that requires interacting loci on chromosome 4 for its phenotypic expression |
| Q92148399 | Cell Mechanics of Craniosynostosis |
| Q33947191 | Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. |
| Q33680617 | Craniosynostosis and chromosome 22q11 deletion |
| Q56365942 | Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance |
| Q37784723 | Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature |
| Q50462362 | Developmental aspects of oral language in craniosynostosis |
| Q55016850 | Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis. |
| Q50288738 | FGFR3c P250R mutant binds to ligand with enhanced affinity |
| Q36752302 | Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene. |
| Q53465565 | Genetic counseling for the 22q11.2 deletion. |
| Q44764569 | Muenke syndrome |
| Q48712590 | Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy. |
| Q24310067 | Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations |
| Q35992146 | Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). |
| Q28270878 | Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis |
| Q34041540 | Phenotype profile of a genetic mouse model for Muenke syndrome |
| Q52133439 | Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. |
| Q56328567 | Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome |
| Q35571060 | Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. |
| Q45314373 | Signaling by FGFR3 in disease |
| Q45314374 | Signaling by FGFR3 point mutants in cancer |
| Q54780420 | Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome. |
| Q46125233 | Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene |
| Q43825014 | Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene |
| Q53958309 | The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis. |
| Q56323188 | The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses |
| Q37642802 | The best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease. |
| Q44452349 | Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis) |
| Q56264870 | Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family |
Search more.