Results 251 to 260 of about 1,044,595 (338)

Preferences of Laypeople, General Dentists, and Dental Specialists Regarding the Position of Occlusal Plane and Dental Midline in Asymmetrical Faces. [PDF]

Int J Dent
Babaee Hemmati Y, Zahed G, Falahchai M.
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

The initial experience of natural orifice specimen extraction surgery in laparoscopic colorectal surgery. [PDF]

Turk J Surg
Ng ZQ, Lokuhetty N, Macdonald C, Warrier S.   +3 more
europepmc   +1 more source

Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction. [PDF]

Nat Commun
Xiong Z, Li Y, Liu X, Lu H, Hysi PG, Pardo LM, Uitterlinden AG, Rivadeneira F, Ikram MA, Ghanbari M, Wolvius EB, Roshchupkin GV, Richmond S, Nijsten T, Spector TD, Wang S, Liu F, Kayser M.   +17 more
europepmc   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

3D anthropometry of the nasolabial region in children aged 3 to 9 months as reference database for clinical assessment. [PDF]

Sci Rep
Olmos M, Backhaus J, Weber M, Matta R, Vogl C, Schulz K, Beyer S, Winter L, Schützenberger A, Kesting M, Lutz R.   +10 more
europepmc   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Evaluation of Facial Proportions, Landmarks Relationships With Facial and Dental Midlines, and Smile Framework. [PDF]

Clin Exp Dent Res
Bagheri Z, Mollabashi V, Maleki MM, Alafchi B.   +3 more
europepmc   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source