proline and Acrocephaly

proline has been researched along with Acrocephaly in 21 studies

Research

Studies (21)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	7 (33.33)	18.2507
2000's	10 (47.62)	29.6817
2010's	4 (19.05)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Aravidis, C; Konialis, CP; Kosmaidou, Z; Pangalos, CG	1
de Jong, T; Hoogeboom, AJ; Mathijssen, IM	1
Mulliken, JB; Padwa, BL; Ridgway, EB; Rogers, GF; Sullivan, SR; Vasudavan, S; Wu, JK	1
Bartlett, SP; Chin, B; Hankenson, KD; Koyama, E; Lakin, GE; Laurita, J; Nah, HD; Taylor, JA	1
Friedrich, M; Lorenz, B; Preising, MN; Schindler, S; Wagener, H	1
Bill, J; Eulert, S; Phan The, L; Reinhart, E; Reuther, J; Würzler, K	1
Caldarelli, M; Di Rocco, C; Di Rocco, F; Sabatino, G; Tamburrini, G; Zampino, G	1
Richards, PG; Thomas, GP; Wall, SA; Wilkie, AO	1
Christensen, L; Darvann, TA; Hermann, NV; Hove, HD; Keller, MK; Kreiborg, S; Larsen, P; Marsh, JL; Schwartz, M	1
Boles, RG; Dhamcharee, V	1
Ignelzi, MA; Kundu, R; Liu, YH; Luo, W; Maxson, RE; Snead, ML; Wu, L	1
Golden, S; Ma, L; Maxson, R; Wu, L	1
Gagnon, DM; Heath, JK; Hoganson, G; Howard, TD; Jabs, EW; Lunt, PW; McDonald-McGinn, DM; Moloney, DM; Muenke, M; Oldridge, M; Twigg, SR; Wilkie, AO; Zackai, EH	1
Baraister, M; Dean, JC; Evans, RD; Hall, CM; Hayward, R; Jones, BM; Malcolm, S; Nevin, NC; Pulleyn, LJ; Reardon, W; Rutland, P; Wilkes, D; Winter, RM	1
Braddock, SR; Graham, JM; Jabs, EW; Lachman, R; Mortier, GR; Van Dop, C	1
Alitalo, K; Gaudenz, K; Muenke, M; Roessler, E; Vainikka, S	1
Cohen, AR; Goldstein, JA; Robin, NH; Scott, JA	1
Bonaventure, J; El-Ghouzzi, V; Lajeunie, E; Le Merrer, M; Renier, D	1
Blandin de Chalain, TM; Moko, SB	1
Nakakita, N; Sakai, N; Sakata, Y; Shida, H; Susami, T; Takato, T; Tokunaga, K; Uchinuma, E; Yamazaki, Y	1
Fleming, J; Gerritsen, J; Graham, GE; Jabs, EW; Lowry, RB	1

Reviews

1 review(s) available for proline and Acrocephaly

Article	Year
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2014, Volume: 27, Issue:14 Topics: Adult; Amino Acid Substitution; Arginine; Craniosynostoses; Family; Female; Greece; Humans; Infant, Newborn; Mutation, Missense; Pedigree; Phenotype; Pregnancy; Prenatal Diagnosis; Proline; Receptor, Fibroblast Growth Factor, Type 3	2014

Article

Year

A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2014, Volume: 27, Issue:14

Topics: Adult; Amino Acid Substitution; Arginine; Craniosynostoses; Family; Female; Greece; Humans; Infant, Newborn; Mutation, Missense; Pedigree; Phenotype; Pregnancy; Prenatal Diagnosis; Proline; Receptor, Fibroblast Growth Factor, Type 3

2014

Other Studies

20 other study(ies) available for proline and Acrocephaly

Article	Year
Additional phenotypic features of Muenke syndrome in 2 Dutch families. The Journal of craniofacial surgery, 2011, Volume: 22, Issue:2 Topics: Acrocephalosyndactylia; Arginine; Craniosynostoses; Female; Humans; Male; Netherlands; Pedigree; Phenotype; Proline; Receptor, Fibroblast Growth Factor, Type 3	2011
Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy. The Journal of craniofacial surgery, 2011, Volume: 22, Issue:2 Topics: Abnormalities, Multiple; Arginine; Cephalometry; Craniosynostoses; Endoscopy; Female; Forehead; Frontal Bone; Humans; Infant; Male; Orbit; Proline; Receptor, Fibroblast Growth Factor, Type 3; Reoperation; Retrospective Studies	2011
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. Developmental dynamics : an official publication of the American Association of Anatomists, 2011, Volume: 240, Issue:11 Topics: Amino Acid Substitution; Animals; Arginine; Cranial Sutures; Craniosynostoses; Growth Plate; Mice; Mice, Transgenic; Models, Biological; Mutation, Missense; Ossification, Heterotopic; Osteogenesis; Phenotype; Proline; Receptor, Fibroblast Growth Factor, Type 3; Skull Base; X-Ray Microtomography	2011
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis. Journal of medical genetics, 2002, Volume: 39, Issue:10 Topics: Amino Acid Substitution; Child, Preschool; Cranial Sutures; Craniosynostoses; Exons; Female; Fibroblast Growth Factors; Genetic Carrier Screening; Humans; Leucine; Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor	2002
[Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. Mund-, Kiefer- und Gesichtschirurgie : MKG, 2003, Volume: 7, Issue:3 Topics: Amino Acid Substitution; Arginine; Cephalometry; Child; Child, Preschool; Craniosynostoses; Female; Follow-Up Studies; Frontal Bone; Humans; Infant; Male; Orbit; Point Mutation; Postoperative Complications; Proline; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor	2003
Muenke syndrome. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2004, Volume: 20, Issue:5 Topics: Arginine; Bone and Bones; Craniosynostoses; Facies; Female; Genes, Dominant; History, 20th Century; Humans; Infant, Newborn; Mutation; Penetrance; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome; Tomography, X-Ray Computed	2004
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. The Journal of craniofacial surgery, 2005, Volume: 16, Issue:3 Topics: Adolescent; Amino Acid Substitution; Arginine; Child; Child, Preschool; Craniosynostoses; Craniotomy; Female; Heterozygote; Humans; Intracranial Hypertension; Male; Point Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Reoperation; Retrospective Studies; Syndrome	2005
Craniofacial morphology in Muenke syndrome. The Journal of craniofacial surgery, 2007, Volume: 18, Issue:2 Topics: Amino Acid Substitution; Arginine; Chi-Square Distribution; Cranial Sutures; Craniosynostoses; Facial Asymmetry; Female; Humans; Imaging, Three-Dimensional; Infant; Male; Mutation, Missense; Proline; Receptor, Fibroblast Growth Factor, Type 3; Severity of Illness Index; Sex Ratio; Statistics, Nonparametric; Syndrome; Tomography, X-Ray Computed	2007
FGFR mutations and plagiocephaly. The Journal of craniofacial surgery, 2008, Volume: 19, Issue:1 Topics: Acrocephalosyndactylia; Arginine; Craniofacial Dysostosis; Craniosynostoses; Electrophoresis; Exons; Genetic Predisposition to Disease; Genetic Variation; Humans; Infant; Mutation; Plagiocephaly, Nonsynostotic; Proline; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor	2008
Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull. Proceedings of the National Academy of Sciences of the United States of America, 1995, Jun-20, Volume: 92, Issue:13 Topics: Animals; Craniosynostoses; DNA-Binding Proteins; Female; Genes, Homeobox; Histidine; Homeodomain Proteins; Humans; In Situ Hybridization; Infant, Newborn; Male; Mice; Mice, Inbred Strains; Mice, Transgenic; Point Mutation; Proline; Skull	1995
The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. Human molecular genetics, 1996, Volume: 5, Issue:12 Topics: Animals; Craniosynostoses; DNA-Binding Proteins; Histidine; Homeodomain Proteins; Humans; Mice; Point Mutation; Proline; Protein Binding	1996
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Human molecular genetics, 1997, Volume: 6, Issue:1 Topics: Adult; Child; Craniosynostoses; Dipeptides; Female; Foot Deformities, Congenital; Genotype; Hand Deformities, Congenital; Humans; Immunoglobulins; Male; Nucleotides; Pedigree; Phenotype; Proline; Radiography; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Serine	1997
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. Journal of medical genetics, 1997, Volume: 34, Issue:8 Topics: Acrocephalosyndactylia; Adult; Arginine; Child; Child, Preschool; Craniosynostoses; Female; Fibroblast Growth Factors; Humans; Intellectual Disability; Male; Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor	1997
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. American journal of medical genetics, 1998, May-26, Volume: 77, Issue:4 Topics: Abnormalities, Multiple; Adolescent; Arginine; Craniosynostoses; DNA Mutational Analysis; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant; Male; Pedigree; Point Mutation; Proline; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome	1998
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4. Molecular genetics and metabolism, 1998, Volume: 64, Issue:1 Topics: Acrocephalosyndactylia; Arginine; Base Sequence; Child; Craniosynostoses; Deoxyribonucleases, Type II Site-Specific; Genetic Testing; Humans; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proline; Protein-Tyrosine Kinases; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptor, Fibroblast Growth Factor, Type 3; Receptor, Fibroblast Growth Factor, Type 4; Receptors, Fibroblast Growth Factor; Sequence Homology, Amino Acid	1998
Nonpenetrance in FGFR3-associated coronal synostosis syndrome. American journal of medical genetics, 1998, Nov-16, Volume: 80, Issue:3 Topics: Adult; Arginine; Craniosynostoses; Female; Humans; Infant; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome	1998
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. Journal of neurosurgery, 2000, Volume: 92, Issue:4 Topics: Arginine; Chi-Square Distribution; Child; Child, Preschool; Craniosynostoses; DNA; Female; Fibroblast Growth Factors; Fingers; Follow-Up Studies; Frontal Bone; Humans; Hypertelorism; Intelligence; Male; Parietal Bone; Phenotype; Point Mutation; Prevalence; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Sex Factors; Skull; Temporal Bone; Treatment Outcome	2000
New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis. Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery, 2001, Volume: 29, Issue:1 Topics: Arginine; Codon; Craniosynostoses; Cytosine; Exons; Female; Fibroblast Growth Factors; Frontal Bone; Gene Expression; Genes, Dominant; Guanine; Heterozygote; Humans; Male; Mutation; Native Hawaiian or Other Pacific Islander; New Zealand; Parietal Bone; Pedigree; Phenotype; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; White People	2001
Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis. The Journal of craniofacial surgery, 2001, Volume: 12, Issue:6 Topics: Acrocephalosyndactylia; Arginine; Cleft Palate; Codon; Craniofacial Dysostosis; Craniosynostoses; Exons; Female; Heterozygote; Humans; Japan; Male; Mutation; Polymerase Chain Reaction; Proline; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; Serine; Syndactyly; Tryptophan	2001
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. American journal of medical genetics, 2001, Nov-22, Volume: 104, Issue:2 Topics: Adult; Arginine; Child, Preschool; Craniosynostoses; Facies; Family Health; Female; Humans; Klippel-Feil Syndrome; Male; Mutation; Pedigree; Point Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Shoulder; Syndrome	2001