Results 61 to 70 of about 262 (109)

A longitudinal study of the role of fingers in the development of early number and arithmetic skills in children with Apert syndrome. [PDF]

J Anat
Hilton C.
europepmc   +1 more source

Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome. [PDF]

Anesth Prog, 2015
Tsukamoto M, Yokoyama T.
europepmc   +1 more source

Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas. [PDF]

Diagn Pathol, 2018
Ito S, Kitazawa R, Haraguchi R, Kondo T, Ouchi A, Ueda Y, Kitazawa S.   +6 more
europepmc   +1 more source

Annotating cancer variants and anti-cancer therapeutics in reactome. [PDF]

Cancers (Basel), 2012
Milacic M, Haw R, Rothfels K, Wu G, Croft D, Hermjakob H, D'Eustachio P, Stein L.   +7 more
europepmc   +1 more source

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies. [PDF]

Am J Med Genet A, 2017
Crapster JA, Hudgins L, Chen JK, Gomez-Ospina N.   +3 more
europepmc   +1 more source

[A case of Apert's acrocephalosyndactylia in an infant].

Pediatria polska, 1998
M, KRAUZE, J, ZAREBA
openaire   +1 more source

Acrocephalosyndactylia Associated With a Chromosomal Translocation [PDF]

American Journal of Diseases of Children, 1970
An infant with typical acrocephalosyndactylia was found to have a consistently present deletion-translocation of the short arms of chromosome 2 to the long arms of one of the chromosomes in the 11-12 group, a karyotype of 46,XX,t (2p−; Cq+). This patient brings the total reported number of abnormal karyotypes in ACS to four of the 24 patients studied ...
W E, Dodson, M, Museles, J L, Kennedy, M, al-Aish   +3 more
openaire   +3 more sources

[Acrocephalosyndactylia: Pfeiffer's syndrome]. [PDF]

Archivio stomatologico, 1987
FEMIANO, Felice, SERPICO, Rosario, LAINO, Gregorio   +2 more
openaire   +3 more sources

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[Acrocephalosyndactylia--Vogt syndrome].

Psychiatrie, Neurologie, und medizinische Psychologie, 1985
A genetically remarkable case of the Vogt syndrome (combination of the Apert and Crouzon syndromes) associated with a dysraphia syndrome is described. Clinically, malformations corresponding to the Apert syndrome were prominent, and radiological examination of the skull revealed a prominent Crouzon syndrome.
P, Fehlow, F, Walther
openaire   +1 more source

[The Apert syndrome (acrocephalosyndactylia). A case study].

Fortschritte der Medizin, 1979
In a patient of our hospital, who underwent surgery twice, a typical case of Apert-syndrome was diagnosed. Esophageal dilatation and diverticulum was found, which led to regurgitation during the induction of anesthesia. The association of the esophageal deformity with the Apert-syndrome is discussed.
W, Flerow, F, Szamak
openaire   +1 more source