Results 121 to 130 of about 598,158 (213)

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus

Pediatric Dermatology, EarlyView.
ABSTRACT Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder characterized by pruritic, erythematous, and scaly plaques following Blaschko's lines. Known genetic causes include somatic variants in CARD14 and GJA1. In addition, a similar phenotype of congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD ...
Janan Mohamad, Kiril Malovitski, Moshe Giladi, Eylon Sharoni, Nabih Elias, Yarden Feller, Jacob Mashiah, Moran Furman, Ofer Sarig, Eli Sprecher, Liat Samuelov   +10 more
wiley   +1 more source

Long‐term stability of horizontal bone augmentation at implant sites

Periodontology 2000, EarlyView.
Abstract Horizontal bone augmentation is a fundamental surgical procedure in regenerative implant dentistry. In recent decades, this procedure has evolved, enabling clinicians to achieve predictable and stable horizontal bone augmentation that supports dental implant restorations.
Jia‐Hui Fu, Hui Jia Sophia Choo, Ding‐Sen Ong, Henry Kwek   +3 more
wiley   +1 more source

Congenital Hallux Valgus - One Case Report -

, 1997
Hallux valgus is a hereditary deformity whose natural history is influenced by intrinsic and extrinsic factors. The deformity is infrequently noticed in newborns and infants because of its trivial nature that does not draw attention. Because in childhood
강호정
core  

FAMILY STUDIES AND THE CAUSE OF CONGENITAL CLUB FOOT

, 1964
1. The family history of, and associated congenital abnormalities in, patients with talipes equinovarus, talipes calcaneo-valgus and metatarsus varus living in Devonshire has been studied. 2.
Ruth Wynne-Davies
core   +1 more source

Knockdown of mitotically associated long non‐coding RNA dysregulates endothelial functions, transcriptome and proteome

The Journal of Physiology, EarlyView.
Abstract figure legend Downregulation of mitotically associated long non‐coding RNA (MANCR) disturbs transcriptome and proteome in endothelial cells, possibly leading to endothelial and vascular dysfunction in preeclampsia. Abstract Preeclampsia (PE) is a hypertensive disorder during pregnancy, which is characterized by a wide spectrum of endothelial ...
Si‐Yan Zhang, Chi Zhou, Jing Zheng
wiley   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, Volume 110, Issue 6, Page 748-755, December 2026.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2443-2453, November 2026.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Intraosseous Angiolipoma of the Maxilla: First Reported Case With a Review of the Literature

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Angiolipomas are benign mesenchymal neoplasms composed of mature adipocytes and vascular channels, typically occurring in subcutaneous tissue. Intraosseous is extremely rare and has been described in only 22 cases in the previous studies, affecting mainly the mandible, calvarium, ribs, and long bones.
Shervin Shafiei, Armin Khaleghi, Hamidreza Arefifard, Nafise Shamloo   +3 more
wiley   +1 more source

Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients [PDF]

, 2014
Background Myotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms.
Fujak, Albert, Schilling, Lisa, Forst, Jürgen, Forst, Raimund   +3 more
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Deep Intramuscular Vascular Malformations in Pediatric Klippel–Trenaunay Syndrome Mimicking Maffucci Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Klippel‐Trenaunay syndrome (KTS) is a rare congenital vascular overgrowth disorder characterized by capillary and venous or lymphatic malformations with limb hypertrophy. Deep intramuscular involvement in children is uncommon and may resemble other vascular‐overgrowth syndromes.
Syeda Simrah Shah, Barka Sajid, Muzainah Tabassum, Mirha Ali, Taher Janoowala, Tehreem Farooq, Muhammad Ahsan, Mirza Mohammad Ali Baig, Mirza Daniyal Baig, Mohammed Hammad Jaber Amin   +9 more
wiley   +1 more source