Results 51 to 60 of about 1,239 (147)

Uptake rates for non‐invasive prenatal screening for single‐gene disorders associated with advanced paternal age

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract This study sought to quantify uptake rates of non‐invasive prenatal screening for de novo single‐gene disorders (NIPS‐SGD) in pregnant subjects whose reproductive partner is of advanced paternal age (APA) and to determine individual parameters associated with higher test uptake rates.
Kylie Katz, Justin S. Brandt, Gary Heiman, Laurie Simone, Shama Khan, Pranali Shingala, Elena Ashkinadze   +6 more
wiley   +1 more source

Hypochondroplasia with Acanthosis Nigricans and Moyamoya Disease [PDF]

Annals of Child Neurology, 2023
Yoo Jung Lee, Yoon Hee Jo, Mun-Bum Kim, Young Mi Kim   +3 more
doaj   +1 more source

Parental Somatic Mosaicism Detected During Prenatal Diagnosis

Prenatal Diagnosis, Volume 45, Issue 2, Page 171-177, February 2025.
ABSTRACT Objective Accurate recurrence risks are essential for genomic counselling and parental reproductive choices. Historically, Sanger sequencing was used to test parental samples, which has a limited sensitivity of ∼ 10% for detecting somatic mosaicism.
Natalie J. Chandler, Elizabeth Scotchman, Fiona McKay, Vijaya Ramachandran, Lyn S. Chitty   +4 more
wiley   +1 more source

Enzyme replacement therapy for hypophosphatasia—The current paradigm

Clinical Endocrinology, Volume 101, Issue 6, Page 593-601, December 2024.
Abstract Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity. It is caused by either autosomal recessive or dominant‐negative mutations in the gene that encodes TNSALP.
Aaron Schindeler, Karissa Ludwig, Craig F. Munns   +2 more
wiley   +1 more source

Complicated Spinal Stenosis and Spinal Deformity in Patients with Achondroplasia: Case Series and Review of the Literature

Orthopaedic Surgery, Volume 16, Issue 12, Page 3059-3067, December 2024.
Achondroplasia has a major impact on a patient's skeletal growth and can cause spinal stenosis, spinal abnormalities, and other locomotor system issues. Surgery is still the primary therapy for musculoskeletal system complications. Objective Due to the low incidence of achondroplasia (Ach), there is a relative lack of research on the treatment and ...
Wenyang Fu, Xianlei Gao, Xia Wang, Rongkun Xu, Shangye Li, Lianlei Wang, Xinyu Liu   +6 more
wiley   +1 more source

A possible juvenile hypochondroplasia case from the mass grave of Lazzaretto Nuovo Island (Venice) [PDF]

Among the remains of individuals buried in the cemetery of the New Lazaretto (Venice) during the plague epidemic of 1576, a juvenile skeleton with a discrepancy between the biological age at death obtained by the diaphyseal length was recovered.
Borrini, M, Borrini, C, Riccadonna, L
core   +3 more sources

Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Achondroplasia (ACH) is a rare, autosomal dominant skeletal dysplasia characterized by short stature, characteristic facial configuration, and trident hands. Before vosoritide approval in Japan, patients with ACH could start growth hormone (GH) treatment at age 3 years.
Hiroyuki Saitou, Taichi Kitaoka, Takuo Kubota, Junko Kanno, Hiroshi Mochizuki, Toshimi Michigami, Kosei Hasegawa, Ikuma Fujiwara, Takashi Hamajima, Daisuke Harada, Yuko Seki, Keisuke Nagasaki, Sumito Dateki, Noriyuki Namba, Hirofumi Tokuoka, Jeanne M. Pimenta, Shelda Cohen, Keiichi Ozono   +17 more
wiley   +1 more source

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia

, 2000
Winterpacht, Andreas, Katja Hilbert, Christiane Stelzer, Thorsten Schweikardt, Heinz Decker, Hugo Segerer, Jürgen Spranger, and Bernhard Zabel. A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol.
HUGO SEGERER, THORSTEN SCHWEIKARDT, HEINZ DECKER, CHRISTIANE STELZER, ANDREAS WINTERPACHT, KATJA HILBERT, JÜRGEN SPRANGER, BERNHARD ZABEL   +7 more
core   +1 more source

Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias

Clinical Genetics, Volume 106, Issue 1, Page 47-55, July 2024.
NGS‐Multigene panel sequencing with 386 genes known or suspected to cause skeletal dysplasias (SKDs) was employed to investigate SKDs in 7 consanguineous Pakistani families and 27 Indian cases. Various known and novel variants across different genes associated with SKDs were identified. Thus, expanding the allelic spectrum of SKDs.
Naseebullah Kakar, Fazal ur Rehman, Ramandeep Kaur, Gandham SriLakshmi Bhavani, Manisha Goyal, Hitesh Shah, Karandeep Kaur, Kushaljit Singh Sodhi, Christian Kubisch, Guntram Borck, Inusha Panigrahi, Katta Mohan Girisha, Uwe Kornak, Malte Spielmann   +13 more
wiley   +1 more source

MINIMALLY INVASIVE COUNTER CORTICOTOMY OF THE DISTAL FEMUR IN PATIENTS WITH CONGENITAL LOWER LIMB DISORDERS (WITH PRESERVATION OF MEDULLARY CANAL STRUCTURES)

Неонатологія, хірургія та перинатальна медицина
The increasing demand for orthopaedic correction calls for the refinement of surgical techniques that maximize bone regeneration while minimizing iatrogenic trauma to the medullary canal.
Х. Мірзамуродов, А. Гаффоров, А. Тешаєв, А. Ісомутдінов   +3 more
doaj   +1 more source