Results 171 to 180 of about 69,523 (324)

An improved technique for buccal inlays in cleft lip and palate cases

, 1966
John Rayne
openalex   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Application of Dolder Attachment in Cases of Hare-lip and Cleft Palate Prosthesis

, 1968
Yoshihiko Okuno, Yasushi Ohara, T Sato, Hiroaki Matushiro   +3 more
openalex   +2 more sources

Bucconasal Fistula with Bilateral Supernumary Teeth in an Operated Cleft Lip and Palate Patient (A Case Report) [PDF]

, 1977
V. N. S. Yadava, R. P. Srivastava
openalex   +1 more source

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency

Clinical Genetics, Volume 108, Issue 2, Page 199-205, August 2025.
BMP2 haploinsufficiency is known to be associated with short stature, skeletal malformations, specific craniofacial traits and cardiac malformations. This study including individuals with predicted BMP2 haploinsufficiency provides additional insight regarding less established and sometimes controversial phenotypes such as degree of developmental delay,
Elin Stavrén‐Eriksson, Anna Hammarsjö, Anna Lindstrand, Ann Nordgren, Giedre Grigelioniene, Maritta Hellström Pigg   +5 more
wiley   +1 more source

Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. [PDF]

, 1988
Gönül Oğur, Mehmet Eren Yüksel
openalex   +1 more source

Analysis of Three Approaches to the Pterygomaxillary Region in the Le Fort I Osteotomy

Oral Surgery, Volume 18, Issue 3, Page 302-311, August 2025.
ABSTRACT Objective The purpose of this study was to measure the association between the Le Fort I osteotomy technique and the pterygomaxillary separation pattern. Materials and Methods The sample was comprised of the medical records of 39 patients undergoing orthognathic surgery. The type of Le Fort I osteotomy technique was divided into three groups: (
Ítalo Miranda do Vale Pereira, Felipe Augusto Silva de Oliveira, Priscila Faleiros Bertelli Trivellato, Cássio Edvard Sverzut, Alexandre Elias Trivellato   +4 more
wiley   +1 more source

Susceptibility to phenytoin-induced cleft lip with or without cleft palate: many genes are involved [PDF]

, 1987
I Károlyi, Sharon Liu, Robert P. Erickson   +2 more
openalex   +1 more source

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa, Maura Guyler, Krystal L. Tomei, Howard D. Wang   +3 more
wiley   +1 more source

Permanent records of cleft lip, nose and palate abnormalities

, 1974
Ramesh Chandra, Rajat Sharma, S.K. Makrandi   +2 more
openalex   +1 more source