Filippi syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Filippi syndrome" in English language version.

refsWebsite

Global rank English rank

20nih.gov

4^th place

15doi.org

2^nd place

14worldcat.org

5^th place

8semanticscholar.org

11^th place

8^th place

2rarediseases.org

5,181^st place

3,260^th place

2omim.org

4,380^th place

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1lww.com

2,769^th place

3,314^th place

1medlineplus.gov

1,581^st place

1,299^th place

1orpha.net

3,537^th place

7,177^th place

1genome.gov

9,308^th place

8,899^th place

1wiley.com

222^nd place

297^th place

1cdc.gov

218^th place

212^th place

cdc.gov

phinvads.cdc.gov

"Code System Concept".

doi.org

Cabala, Magdalena; Stevens, Servi J.C.; Smigiel, Robert (October 2013). "A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature". Clinical Dysmorphology. 22 (4): 146–148. doi:10.1097/MCD.0b013e3283645a30. ISSN 0962-8827. PMID 23863342.
Goyal, Lata; Goyal, Jagdish Prasad; Bhakhri, Bhanu Kiran; Chug, Ashi (December 2015). "Filippi Syndrome: Report of a Rare Case". Journal of Clinical and Diagnostic Research. 9 (12): SD01 – SD03. doi:10.7860/JCDR/2015/14550.6945. ISSN 2249-782X. PMC 4717725. PMID 26813917.
Karakaya, Taner; Bilgic, Ali Evren; Eris, Deniz; Baser, Burak; Mermer, Serdar; Yildiz, Onur (July 2021). "Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus". American Journal of Medical Genetics Part A. 185 (7): 2198–2203. doi:10.1002/ajmg.a.62223. ISSN 1552-4825. PMID 33913579. S2CID 233446017.
Jelin, Angie C.; Vora, Neeta (March 2018). "Whole Exome Sequencing: Applications in Prenatal Genetics". Obstetrics and Gynecology Clinics of North America. 45 (1): 69–81. doi:10.1016/j.ogc.2017.10.003. ISSN 1558-0474. PMC 5813701. PMID 29428287.
Voelkerding, Karl V.; Dames, Shale A.; Durtschi, Jacob D. (April 2009). "Next-generation sequencing: from basic research to diagnostics". Clinical Chemistry. 55 (4): 641–658. doi:10.1373/clinchem.2008.112789. ISSN 1530-8561. PMID 19246620.
Manning, Melanie; Hudgins, Louanne; American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee (December 2020). "Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities". Genetics in Medicine. 22 (12): 2126. doi:10.1038/s41436-020-0848-8. ISSN 1530-0366. PMID 32514088. S2CID 219528475.
Kvernmo, Hebe Désirée; Haugstvedt, Jan-Ragnar (2013-08-20). "Treatment of congenital syndactyly of the fingers". Tidsskrift for den Norske Laegeforening. 133 (15): 1591–1595. doi:10.4045/tidsskr.13.0147. ISSN 0807-7096. PMID 23970273.
Wang, Bin; Tian, Xiaofei; Hu, Yong (July 2019). "Treatment of Common Congenital Hand Conditions". Clinics in Plastic Surgery. 46 (3): 489–503. doi:10.1016/j.cps.2019.03.009. ISSN 1558-0504. PMID 31103092. S2CID 145864114.
Richardson, D; Thiruchelvam, J K (October 2006). "Craniofacial surgery for orbital malformations". Eye. 20 (10): 1224–1227. doi:10.1038/sj.eye.6702475. ISSN 0950-222X. PMID 17019423. S2CID 23383005.
Laure, B.; Batut, C.; Benouhagrem, A.; Joly, A.; Travers, N.; Listrat, A.; Pare, A. (2019-11-01). "Addressing hypertelorism: Indications and techniques". Neurochirurgie. 65 (5): 286–294. doi:10.1016/j.neuchi.2019.09.007. ISSN 0028-3770. PMID 31557491. S2CID 203568443.
Batut, Claire; Joly, Aline; Travers, Nadine; Guichard, Benjamin; Paré, Arnaud; Laure, Boris (November 2019). "Surgical treatment of orbital hypertelorism: Historical evolution and development prospects". Journal of Cranio-Maxillofacial Surgery. 47 (11): 1712–1719. doi:10.1016/j.jcms.2019.07.002. PMID 31519384. S2CID 199043242.
Spataro, Emily; Branham, Gregory H. (February 2017). "Principles of Nasal Reconstruction". Facial Plastic Surgery. 33 (1): 9–16. doi:10.1055/s-0036-1597949. ISSN 1098-8793. PMID 28226366. S2CID 30385446.
Houtrow, Amy; Murphy, Nancy; COUNCIL ON CHILDREN WITH DISABILITIES (April 2019). "Prescribing Physical, Occupational, and Speech Therapy Services for Children With Disabilities". Pediatrics. 143 (4): e20190285. doi:10.1542/peds.2019-0285. ISSN 1098-4275. PMID 30910917. S2CID 85514471.
Duffy, J. R. (2016). "Functional speech disorders". Functional speech disorders: clinical manifestations, diagnosis, and management. Handbook of Clinical Neurology. Vol. 139. pp. 379–388. doi:10.1016/B978-0-12-801772-2.00033-3. ISBN 978-0-12-801772-2. ISSN 0072-9752. PMID 27719858.
Furlong, Lisa; Erickson, Shane; Morris, Meg E. (July 2017). "Computer-based speech therapy for childhood speech sound disorders". Journal of Communication Disorders. 68: 50–69. doi:10.1016/j.jcomdis.2017.06.007. ISSN 1873-7994. PMID 28651106.

genome.gov

"Frameshift Mutation". Genome.gov. Retrieved 2022-03-30.

lww.com

journals.lww.com

Cabala, Magdalena; Stevens, Servi J.C.; Smigiel, Robert (October 2013). "A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature". Clinical Dysmorphology. 22 (4): 146–148. doi:10.1097/MCD.0b013e3283645a30. ISSN 0962-8827. PMID 23863342.

medlineplus.gov

"Craniofacial Abnormalities". medlineplus.gov. Retrieved 2022-03-29.

nih.gov

pubmed.ncbi.nlm.nih.gov

Cabala, Magdalena; Stevens, Servi J.C.; Smigiel, Robert (October 2013). "A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature". Clinical Dysmorphology. 22 (4): 146–148. doi:10.1097/MCD.0b013e3283645a30. ISSN 0962-8827. PMID 23863342.
Goyal, Lata; Goyal, Jagdish Prasad; Bhakhri, Bhanu Kiran; Chug, Ashi (December 2015). "Filippi Syndrome: Report of a Rare Case". Journal of Clinical and Diagnostic Research. 9 (12): SD01 – SD03. doi:10.7860/JCDR/2015/14550.6945. ISSN 2249-782X. PMC 4717725. PMID 26813917.
Karakaya, Taner; Bilgic, Ali Evren; Eris, Deniz; Baser, Burak; Mermer, Serdar; Yildiz, Onur (July 2021). "Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus". American Journal of Medical Genetics Part A. 185 (7): 2198–2203. doi:10.1002/ajmg.a.62223. ISSN 1552-4825. PMID 33913579. S2CID 233446017.
Jelin, Angie C.; Vora, Neeta (March 2018). "Whole Exome Sequencing: Applications in Prenatal Genetics". Obstetrics and Gynecology Clinics of North America. 45 (1): 69–81. doi:10.1016/j.ogc.2017.10.003. ISSN 1558-0474. PMC 5813701. PMID 29428287.
Voelkerding, Karl V.; Dames, Shale A.; Durtschi, Jacob D. (April 2009). "Next-generation sequencing: from basic research to diagnostics". Clinical Chemistry. 55 (4): 641–658. doi:10.1373/clinchem.2008.112789. ISSN 1530-8561. PMID 19246620.
Manning, Melanie; Hudgins, Louanne; American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee (December 2020). "Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities". Genetics in Medicine. 22 (12): 2126. doi:10.1038/s41436-020-0848-8. ISSN 1530-0366. PMID 32514088. S2CID 219528475.
Kvernmo, Hebe Désirée; Haugstvedt, Jan-Ragnar (2013-08-20). "Treatment of congenital syndactyly of the fingers". Tidsskrift for den Norske Laegeforening. 133 (15): 1591–1595. doi:10.4045/tidsskr.13.0147. ISSN 0807-7096. PMID 23970273.
Wang, Bin; Tian, Xiaofei; Hu, Yong (July 2019). "Treatment of Common Congenital Hand Conditions". Clinics in Plastic Surgery. 46 (3): 489–503. doi:10.1016/j.cps.2019.03.009. ISSN 1558-0504. PMID 31103092. S2CID 145864114.
Richardson, D; Thiruchelvam, J K (October 2006). "Craniofacial surgery for orbital malformations". Eye. 20 (10): 1224–1227. doi:10.1038/sj.eye.6702475. ISSN 0950-222X. PMID 17019423. S2CID 23383005.
Laure, B.; Batut, C.; Benouhagrem, A.; Joly, A.; Travers, N.; Listrat, A.; Pare, A. (2019-11-01). "Addressing hypertelorism: Indications and techniques". Neurochirurgie. 65 (5): 286–294. doi:10.1016/j.neuchi.2019.09.007. ISSN 0028-3770. PMID 31557491. S2CID 203568443.
Batut, Claire; Joly, Aline; Travers, Nadine; Guichard, Benjamin; Paré, Arnaud; Laure, Boris (November 2019). "Surgical treatment of orbital hypertelorism: Historical evolution and development prospects". Journal of Cranio-Maxillofacial Surgery. 47 (11): 1712–1719. doi:10.1016/j.jcms.2019.07.002. PMID 31519384. S2CID 199043242.
Spataro, Emily; Branham, Gregory H. (February 2017). "Principles of Nasal Reconstruction". Facial Plastic Surgery. 33 (1): 9–16. doi:10.1055/s-0036-1597949. ISSN 1098-8793. PMID 28226366. S2CID 30385446.
Houtrow, Amy; Murphy, Nancy; COUNCIL ON CHILDREN WITH DISABILITIES (April 2019). "Prescribing Physical, Occupational, and Speech Therapy Services for Children With Disabilities". Pediatrics. 143 (4): e20190285. doi:10.1542/peds.2019-0285. ISSN 1098-4275. PMID 30910917. S2CID 85514471.
Duffy, J. R. (2016). "Functional speech disorders". Functional speech disorders: clinical manifestations, diagnosis, and management. Handbook of Clinical Neurology. Vol. 139. pp. 379–388. doi:10.1016/B978-0-12-801772-2.00033-3. ISBN 978-0-12-801772-2. ISSN 0072-9752. PMID 27719858.
Furlong, Lisa; Erickson, Shane; Morris, Meg E. (July 2017). "Computer-based speech therapy for childhood speech sound disorders". Journal of Communication Disorders. 68: 50–69. doi:10.1016/j.jcomdis.2017.06.007. ISSN 1873-7994. PMID 28651106.

ncbi.nlm.nih.gov

Goyal, Lata; Goyal, Jagdish Prasad; Bhakhri, Bhanu Kiran; Chug, Ashi (December 2015). "Filippi Syndrome: Report of a Rare Case". Journal of Clinical and Diagnostic Research. 9 (12): SD01 – SD03. doi:10.7860/JCDR/2015/14550.6945. ISSN 2249-782X. PMC 4717725. PMID 26813917.
"CKAP2L cytoskeleton associated protein 2 like [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-03-29.
Jelin, Angie C.; Vora, Neeta (March 2018). "Whole Exome Sequencing: Applications in Prenatal Genetics". Obstetrics and Gynecology Clinics of North America. 45 (1): 69–81. doi:10.1016/j.ogc.2017.10.003. ISSN 1558-0474. PMC 5813701. PMID 29428287.

rarediseases.info.nih.gov

"Filippi syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-03-29.
"Filippi syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-11-06.

omim.org

"OMIM Entry - # 272440 - FILIPPI SYNDROME; FLPIS". www.omim.org. Retrieved 2022-03-29.
"OMIM Entry - * 616174 - CYTOSKELETON-ASSOCIATED PROTEIN 2-LIKE; CKAP2L". www.omim.org. Retrieved 2022-03-29.

orpha.net

RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Filippi syndrome Syndactyly type 1 microcephaly mental retardation". www.orpha.net. Retrieved 2022-03-29.{{cite web}}: CS1 maint: numeric names: authors list (link)

rarediseases.org

"Filippi Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-03-29.
"Filippi Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-11-05.

semanticscholar.org

api.semanticscholar.org

Karakaya, Taner; Bilgic, Ali Evren; Eris, Deniz; Baser, Burak; Mermer, Serdar; Yildiz, Onur (July 2021). "Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus". American Journal of Medical Genetics Part A. 185 (7): 2198–2203. doi:10.1002/ajmg.a.62223. ISSN 1552-4825. PMID 33913579. S2CID 233446017.
Manning, Melanie; Hudgins, Louanne; American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee (December 2020). "Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities". Genetics in Medicine. 22 (12): 2126. doi:10.1038/s41436-020-0848-8. ISSN 1530-0366. PMID 32514088. S2CID 219528475.
Wang, Bin; Tian, Xiaofei; Hu, Yong (July 2019). "Treatment of Common Congenital Hand Conditions". Clinics in Plastic Surgery. 46 (3): 489–503. doi:10.1016/j.cps.2019.03.009. ISSN 1558-0504. PMID 31103092. S2CID 145864114.
Richardson, D; Thiruchelvam, J K (October 2006). "Craniofacial surgery for orbital malformations". Eye. 20 (10): 1224–1227. doi:10.1038/sj.eye.6702475. ISSN 0950-222X. PMID 17019423. S2CID 23383005.
Laure, B.; Batut, C.; Benouhagrem, A.; Joly, A.; Travers, N.; Listrat, A.; Pare, A. (2019-11-01). "Addressing hypertelorism: Indications and techniques". Neurochirurgie. 65 (5): 286–294. doi:10.1016/j.neuchi.2019.09.007. ISSN 0028-3770. PMID 31557491. S2CID 203568443.
Batut, Claire; Joly, Aline; Travers, Nadine; Guichard, Benjamin; Paré, Arnaud; Laure, Boris (November 2019). "Surgical treatment of orbital hypertelorism: Historical evolution and development prospects". Journal of Cranio-Maxillofacial Surgery. 47 (11): 1712–1719. doi:10.1016/j.jcms.2019.07.002. PMID 31519384. S2CID 199043242.
Spataro, Emily; Branham, Gregory H. (February 2017). "Principles of Nasal Reconstruction". Facial Plastic Surgery. 33 (1): 9–16. doi:10.1055/s-0036-1597949. ISSN 1098-8793. PMID 28226366. S2CID 30385446.
Houtrow, Amy; Murphy, Nancy; COUNCIL ON CHILDREN WITH DISABILITIES (April 2019). "Prescribing Physical, Occupational, and Speech Therapy Services for Children With Disabilities". Pediatrics. 143 (4): e20190285. doi:10.1542/peds.2019-0285. ISSN 1098-4275. PMID 30910917. S2CID 85514471.

wiley.com

onlinelibrary.wiley.com

Karakaya, Taner; Bilgic, Ali Evren; Eris, Deniz; Baser, Burak; Mermer, Serdar; Yildiz, Onur (July 2021). "Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus". American Journal of Medical Genetics Part A. 185 (7): 2198–2203. doi:10.1002/ajmg.a.62223. ISSN 1552-4825. PMID 33913579. S2CID 233446017.

worldcat.org

search.worldcat.org

Cabala, Magdalena; Stevens, Servi J.C.; Smigiel, Robert (October 2013). "A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature". Clinical Dysmorphology. 22 (4): 146–148. doi:10.1097/MCD.0b013e3283645a30. ISSN 0962-8827. PMID 23863342.
Goyal, Lata; Goyal, Jagdish Prasad; Bhakhri, Bhanu Kiran; Chug, Ashi (December 2015). "Filippi Syndrome: Report of a Rare Case". Journal of Clinical and Diagnostic Research. 9 (12): SD01 – SD03. doi:10.7860/JCDR/2015/14550.6945. ISSN 2249-782X. PMC 4717725. PMID 26813917.
Karakaya, Taner; Bilgic, Ali Evren; Eris, Deniz; Baser, Burak; Mermer, Serdar; Yildiz, Onur (July 2021). "Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus". American Journal of Medical Genetics Part A. 185 (7): 2198–2203. doi:10.1002/ajmg.a.62223. ISSN 1552-4825. PMID 33913579. S2CID 233446017.
Jelin, Angie C.; Vora, Neeta (March 2018). "Whole Exome Sequencing: Applications in Prenatal Genetics". Obstetrics and Gynecology Clinics of North America. 45 (1): 69–81. doi:10.1016/j.ogc.2017.10.003. ISSN 1558-0474. PMC 5813701. PMID 29428287.
Voelkerding, Karl V.; Dames, Shale A.; Durtschi, Jacob D. (April 2009). "Next-generation sequencing: from basic research to diagnostics". Clinical Chemistry. 55 (4): 641–658. doi:10.1373/clinchem.2008.112789. ISSN 1530-8561. PMID 19246620.
Manning, Melanie; Hudgins, Louanne; American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee (December 2020). "Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities". Genetics in Medicine. 22 (12): 2126. doi:10.1038/s41436-020-0848-8. ISSN 1530-0366. PMID 32514088. S2CID 219528475.
Kvernmo, Hebe Désirée; Haugstvedt, Jan-Ragnar (2013-08-20). "Treatment of congenital syndactyly of the fingers". Tidsskrift for den Norske Laegeforening. 133 (15): 1591–1595. doi:10.4045/tidsskr.13.0147. ISSN 0807-7096. PMID 23970273.
Wang, Bin; Tian, Xiaofei; Hu, Yong (July 2019). "Treatment of Common Congenital Hand Conditions". Clinics in Plastic Surgery. 46 (3): 489–503. doi:10.1016/j.cps.2019.03.009. ISSN 1558-0504. PMID 31103092. S2CID 145864114.
Richardson, D; Thiruchelvam, J K (October 2006). "Craniofacial surgery for orbital malformations". Eye. 20 (10): 1224–1227. doi:10.1038/sj.eye.6702475. ISSN 0950-222X. PMID 17019423. S2CID 23383005.
Laure, B.; Batut, C.; Benouhagrem, A.; Joly, A.; Travers, N.; Listrat, A.; Pare, A. (2019-11-01). "Addressing hypertelorism: Indications and techniques". Neurochirurgie. 65 (5): 286–294. doi:10.1016/j.neuchi.2019.09.007. ISSN 0028-3770. PMID 31557491. S2CID 203568443.
Spataro, Emily; Branham, Gregory H. (February 2017). "Principles of Nasal Reconstruction". Facial Plastic Surgery. 33 (1): 9–16. doi:10.1055/s-0036-1597949. ISSN 1098-8793. PMID 28226366. S2CID 30385446.
Houtrow, Amy; Murphy, Nancy; COUNCIL ON CHILDREN WITH DISABILITIES (April 2019). "Prescribing Physical, Occupational, and Speech Therapy Services for Children With Disabilities". Pediatrics. 143 (4): e20190285. doi:10.1542/peds.2019-0285. ISSN 1098-4275. PMID 30910917. S2CID 85514471.
Duffy, J. R. (2016). "Functional speech disorders". Functional speech disorders: clinical manifestations, diagnosis, and management. Handbook of Clinical Neurology. Vol. 139. pp. 379–388. doi:10.1016/B978-0-12-801772-2.00033-3. ISBN 978-0-12-801772-2. ISSN 0072-9752. PMID 27719858.
Furlong, Lisa; Erickson, Shane; Morris, Meg E. (July 2017). "Computer-based speech therapy for childhood speech sound disorders". Journal of Communication Disorders. 68: 50–69. doi:10.1016/j.jcomdis.2017.06.007. ISSN 1873-7994. PMID 28651106.