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2025

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Year Number of Results
1987 1
1990 1
1992 1
1993 3
1995 1
1999 1
2003 1
2006 2
2009 1
2011 2
2012 2
2013 1
2015 1
2018 1
2019 2
2020 1
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2025 0

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Page 1
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L. Buers I, et al. Clin Genet. 2020 Jan;97(1):209-221. doi: 10.1111/cge.13639. Epub 2019 Sep 16. Clin Genet. 2020. PMID: 31497877 Review.
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. ...Therefore, retinitis pigmentosa and Bohring-Optiz …
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, fee …
Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management.
Shinar S, Chitayat D, Shannon P, Blaser S. Shinar S, et al. Prenat Diagn. 2023 Dec;43(13):1650-1661. doi: 10.1002/pd.6473. Epub 2023 Nov 27. Prenat Diagn. 2023. PMID: 38009873 Review.
The latter may be due to various causes, including but not limited to communicating or non-communicating hydrocephalus, cerebral edema, focal and pericerebral increased fluid collections, thickened calvarium and brain tumors. Megalocephaly can be syndromic or non-syndro
The latter may be due to various causes, including but not limited to communicating or non-communicating hydrocephalus, cerebral edema, foca …
Skull base development and craniosynostosis.
Blaser SI, Padfield N, Chitayat D, Forrest CR. Blaser SI, et al. Pediatr Radiol. 2015 Sep;45 Suppl 3:S485-96. doi: 10.1007/s00247-015-3320-1. Epub 2015 Sep 7. Pediatr Radiol. 2015. PMID: 26346154 Review.
Growth restriction occurring at a stenosed suture is associated with exaggerated growth at the open sutures, resulting in fairly predictable craniofacial phenotypes in single-suture non-syndromic pathologies. Multi-suture syndromic subtypes are not so easy to unders …
Growth restriction occurring at a stenosed suture is associated with exaggerated growth at the open sutures, resulting in fairly predictable …
Adapting obstetric and neonatal services during the COVID-19 pandemic: a scoping review.
Gold S, Clarfield L, Johnstone J, Diambomba Y, Shah PS, Whittle W, Abbasi N, Arzola C, Ashraf R, Biringer A, Chitayat D, Czikk M, Forte M, Franklin T, Jacobson M, Keunen J, Kingdom J, Lapinsky S, MacKenzie J, Maxwell C, Preisman M, Ryan G, Selk A, Sermer M, Silversides C, Snelgrove J, Watts N, Young B, De Castro C, D'Souza R. Gold S, et al. BMC Pregnancy Childbirth. 2022 Feb 11;22(1):119. doi: 10.1186/s12884-022-04409-4. BMC Pregnancy Childbirth. 2022. PMID: 35148698 Free PMC article. Review.
To maintain quality of care, while minimizing physical contact during the Severe Acute Respiratory Syndrome-related Coronavirus-2 (SARS-CoV2) pandemic, hospitals and international organizations issued recommendations on maternity and neonatal care delivery and restructurin …
To maintain quality of care, while minimizing physical contact during the Severe Acute Respiratory Syndrome-related Coronavirus-2 (SA …
Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature.
Wertaschnigg D, Jaeggi M, Chitayat D, Shannon P, Ryan G, Thompson M, Yoo SJ, Jaeggi E. Wertaschnigg D, et al. Ultrasound Obstet Gynecol. 2013 Feb;41(2):162-7. doi: 10.1002/uog.11193. Epub 2013 Jan 7. Ultrasound Obstet Gynecol. 2013. PMID: 22605612 Free article. Review.
OBJECTIVE: To review the anomaly spectrum of prenatally detected absent pulmonary valve syndrome (APVS) and the outcome after diagnosis. Previous fetal studies reported survival rates of 25% for patients with intended postnatal care. ...
OBJECTIVE: To review the anomaly spectrum of prenatally detected absent pulmonary valve syndrome (APVS) and the outcome after diagnos …
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, Ganapathi M. Thomas-Wilson A, et al. Am J Med Genet A. 2023 Jul;191(7):1935-1941. doi: 10.1002/ajmg.a.63203. Epub 2023 Apr 9. Am J Med Genet A. 2023. PMID: 37031378 Review.
The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections; thus, it is important to recognize and diagnose this syndrome in view of its impact on patient health management and familial repro …
The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections …
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.
Carter MT, Blaser S, Papsin B, Meschino W, Reardon W, Klatt R, Babul-Hirji R, Milunsky J, Chitayat D. Carter MT, et al. Am J Med Genet A. 2012 Aug;158A(8):1977-81. doi: 10.1002/ajmg.a.35436. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711382 Review.
Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the he …
Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have con …
Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
Chitayat D, Ruvalcaba RH, Babul R, Teshima IE, Posnick JC, Vekemans MJ, Scarpelli H, Thuline H. Chitayat D, et al. Am J Med Genet. 1995 Jan 16;55(2):147-54. doi: 10.1002/ajmg.1320550203. Am J Med Genet. 1995. PMID: 7717413 Review.
All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf-Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously report …
All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the …
23 results