Results 11 to 20 of about 57,466 (321)

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer   +30 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Variation and development of the turtle chondrocranium, with a description of the common musk turtle (Sternotherus odoratus, Kinosternidae, Cryptodira, Testudines)

The Anatomical Record, EarlyView., 2023
Abstract Based on histological cross‐sections, the chondrocranium of the common musk turtle (Sternotherus odoratus) was reconstructed, described, and compared with other turtles. It differs from that of other turtle chondrocrania by possessing elongated, slightly dorsally orientated nasal capsules with three dorsolateral foramina, which might be ...
Luca Leicht, Zitong Zhang, Ingmar Werneburg   +2 more
wiley   +1 more source

Neuroanatomical study of the podocnemidid turtle Neochelys arenarum (Pleurodira), from the early Eocene of France

The Anatomical Record, EarlyView., 2023
Abstract Neochelys is an exclusively European Eocene podocnemidid genus belonging to a linage that reached this continent at the early Eocene. The so far available anatomical information about it is relatively abundant, especially considering that of its shell, at least partially preserved for the eight valid species currently considered.
Marcos Martín‐Jiménez, Adán Pérez‐García   +1 more
wiley   +1 more source

Osteosarcoma of the maxilla

Journal of the Belgian Society of Radiology, 2012
Background: A 25-year-old male patient presented with tooth pain and progressive swelling of his left cheek. Dental examination was unremarkable.
Vanhoenacker, Filip, Camerlinck, M., De Vuyst, D., Chapelle, K.   +3 more
openaire   +8 more sources

First clear evidence of Anoplotherium (Mammalia, Artiodactyla) in the Iberian Peninsula: an update on the Iberian anoplotheriines

The Anatomical Record, EarlyView., 2023
Abstract Anoplotheriines (Mammalia, Artiodactyla) were enigmatic, medium‐ to large‐sized ungulates that lived in Western Europe from the late middle Eocene to the earliest Oligocene. The unusual dental and postcranial specializations of these Paleogene mammals have no equivalent in other Cenozoic or contemporaneous artiodactyls on Holarctic landmasses.
Ainara Badiola, Nahia Jiménez De Vicuña, Leire Perales‐Gogenola, Asier Gómez‐Olivencia   +3 more
wiley   +1 more source

Lizards and amphisbaenians (Reptilia, Squamata) from the middle Eocene of Mazaterón (Soria, Spain)

The Anatomical Record, EarlyView., 2023
Abstract The assemblage of lizards and amphisbaenians (Reptilia, Squamata) from the middle Eocene locality of Mazaterón (Spain) is described. Considering the rather limited material available for the study, the assemblage shows a moderate diversity with eight taxa corresponding to five different families.
Arnau Bolet
wiley   +1 more source

Ameloblastoma of the Maxilla

Journal of Nepal Medical Association, 2004
A case of recurrent maxillary ameloblastoma in a 48 year's old lady is presented along with a brief reviewof literature. The factors determining recurrence, modalities of treatment and management of recurrenceare discussed.Key Words: Ameloblastoma, Maxilla.
A. K. Singh, Devi Charan Shetty, A L Abrahm, N S Reddy, OP Talwar, R. C. Sharma, Avneesh Kumar   +6 more
openaire   +5 more sources

Craniogenetic studies in Sus scrofa: With emphasis on the ‘orbitosphenoid’ problem

The Anatomical Record, EarlyView., 2023
Abstract The orbitosphenoid is a skeletal element of the endocranium of extant mammals. However, it has also been described in many of their fossil ancestors. Craniogenetic studies show that it is composed of two types of bone: first, the cartilaginous ala orbitalis and parts of the trabecular plate are transformed by endochondral ossification; second,
Wolfgang Maier, Ulla Lächele, Irina Ruf
wiley   +1 more source