Works matching DE "SKELETAL abnormalities"

Results: 635

To study the difference of serum Vitamin D3 level and calcium profile in childhood multitransfused beta-thalassemia major between children receiving chelation therapy and those not receiving chelation therapy in a tertiary care hospital, Kolkata.

Published in:

Asian Journal of Medical Sciences, 2025, v. 16, n. 5, p. 44, doi. 10.71152/ajms.v16i5.4459

By:

Hayder, Shah Masud;
Roy, Shabarna;
Karar, Neha;
Halder, Dipanjan;
Aktar, Rijwoana

Publication type:

Article

Challenges with Conventional Dermal Filler Guidelines: Considering Multi-Axes Facial Rotation Asymmetry Patterns.

Published in:

Archives of Plastic Surgery, 2025, v. 52, n. 3, p. 202, doi. 10.1055/a-2545-1758

By:

Koppert, Erik;
Yi, Kyu-Ho

Publication type:

Article

Anesthetic Management of Children with KBG Syndrome and Novel Use of Sacral Erector Spinae Block: A Case Report.

Published in:

2024

By:

Hussain, Sana Y.;
Patel, Nishant;
Gupta, Anju;
Pandya, Nupur

Publication type:

Case Study

Treatment modalities for management of skeletal and dental Class III malocclusion – A case series.

Published in:

Asian Journal of Oral Health & Allied Sciences, 2024, v. 14, n. 1, p. 1, doi. 10.25259/AJOHAS_25_2023

By:

Panda, Sukanya;
Remin, N. M.;
Biswal, Soumyashree;
Tandon, Ragni

Publication type:

Article

Large diaphragmatic defect: are skeletal deformities preventable?

Published in:

2011

By:

Kuklová, P.;
Zemková, D.;
Kyncl, M.;
Pycha, K.;
Straňák, Z.;
Melichar, J.;
Šnajdauf, J.;
Rygl, M.;
Kuklová, P;
Zemková, D;
Straňák, Z;
Snajdauf, J

Publication type:

journal article

Persistent right aortic arch and associated axial skeletal malformations in cats.

Published in:

Journal of Feline Medicine & Surgery, 2013, v. 15, n. 2, p. 68, doi. 10.1177/1098612X12459736

By:

Tremolada, Giovanni;
Longeri, Maria;
Polli, Michele;
Parma, Pietro;
Acocella, Fabio

Publication type:

Article

Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review.

Published in:

Child's Nervous System, 2021, v. 37, n. 4, p. 1339, doi. 10.1007/s00381-020-04813-1

By:

Muroi, Ai;
Enokizono, Takashi;
Tsurubuchi, Takao;
Tsukada, Kazuaki;
Ohto, Tatsuyuki;
Ishikawa, Eiichi

Publication type:

Article

Expression of matrix metalloproteinases during impairment and recovery of the avian growth plate.

Published in:

Journal of Animal Science, 2009, v. 87, n. 11, p. 3544, doi. 10.2527/jas.2009-2068

By:

Dan, H.;
Simsa-Mazie, S.;
Hisdai, A.;
Sela-Donenfeld, D.;
Monsonego Ornan, E.

Publication type:

Article

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.

Published in:

Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0474-0

By:

Unger, Andreas;
Beckendorf, Lisa;
Böhme, Pierre;
Kley, Rudolf;
Frieling-Salewsky, Marion von;
Lochmüller, Hanns;
Schröder, Rolf;
Fürst, Dieter O.;
Vorgerd, Matthias;
Linke, Wolfgang A.

Publication type:

Article

Four-year clinical follow-up of segmental odontomaxillary dysplasia: a case report.

Published in:

Faculty Dental Journal, 2025, v. 78, n. 7, p. 46, doi. 10.1308/rcsfdj.2025.15

By:

Chan, Ka Hey Christy;
Harvey, Simon;
Jay, Amrita;
Anand, Prabhleen

Publication type:

Article

Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.

Published in:

2024

By:

Ali, Syed M.;
AlMasri, Dua A.;
Prada, Carlos E.;
Lin, Doris;
Bosley, Thomas M.;
Kozak, Igor

Publication type:

Case Study

Neurodevelopmental disorder with dystonia due to SOX6 mutations.

Published in:

2022

By:

Schneider, Susanne A.;
Mueller, Christine;
Biskup, Saskia;
Fietzek, Urban M.;
Schroeder, Andreas Sebastian

Publication type:

Case Study

Anatomy‐based diagnostic criteria for complex body wall anomalies (CBWA).

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1465

By:

Martín‐Alguacil, Nieves

Publication type:

Article

TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1417

By:

Wang, Chen;
Xu, Yufei;
Qing, Yanrong;
Yao, Ruen;
Li, Niu;
Wang, Xiumin;
Yu, Tingting;
Wang, Jian

Publication type:

Article

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1132

By:

Chesneau, Bertrand;
Edouard, Thomas;
Dulac, Yves;
Colineaux, Hélène;
Langeois, Maud;
Hanna, Nadine;
Boileau, Catherine;
Arnaud, Pauline;
Chassaing, Nicolas;
Julia, Sophie;
Jondeau, Guillaume;
Plancke, Aurélie;
Khau Van Kien, Philippe;
Plaisancié, Julie

Publication type:

Article

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.969

By:

Russell, Bianca E.;
Rigueur, Diana;
Weaver, Kathryn N.;
Sund, Kristen;
Basil, Janet S.;
Hufnagel, Robert B.;
Prows, Cynthia A.;
Oestreich, Alan;
Al‐Gazali, Lihadh;
Hopkin, Robert J;
Saal, Howard M.;
Lyons, Karen;
Dauber, Andrew

Publication type:

Article

EP06.05: A retrospective study on prenatal diagnosis of skeletal dysplasias in Chinese.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 213, doi. 10.1002/uog.19850

By:

Chen, J.;
Huang, W.;
Xie, Y.;
Jian, W.;
Chen, F.;
Zhang, W.;
Li, S.;
Chen, M.;
Chen, D.

Publication type:

Article

OP02.01: Prenatal ultrasound features in a case of Kabuki syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 69, doi. 10.1002/uog.19401

By:

Liana, P.;
Moga, M.A.;
Sima, R.;
Poenaru, M.;
Stanescu, A.;
Dimienescu, O.

Publication type:

Article

EP10.12: Prenatal diagnosis of diaphanospondylodystosis (DSD): a case report.

Published in:

2016

By:

Hofstaetter, C.;
Raio, L.

Publication type:

journal article

Confined placental mosaicism of double trisomies 9 and 21: discrepancy between non-invasive prenatal testing, chorionic villus sampling and postnatal confirmation.

Published in:

2016

By:

Cheng, H.‐H.;
Ma, G.‐C.;
Tsai, C.‐C.;
Wu, W.‐J.;
Lan, K.‐C.;
Hsu, T.‐Y.;
Yang, C.‐W.;
Chen, M.

Publication type:

Case Study

Fetal hemivertebra: associations and perinatal outcome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2015, v. 45, n. 4, p. 434, doi. 10.1002/uog.13401

By:

Basude, S.;
McDermott, L.;
Newell, S.;
Wreyford, B.;
Denbow, M.;
Hutchinson, J.;
Abdel‐Fattah, S.

Publication type:

Article

Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 43, n. 4, p. 475, doi. 10.1002/uog.13238

By:

Paladini, D.;
Tiesi, M.;
Buffi, D.;
Tuo, G.;
Marasini, M.

Publication type:

Article

P03.14: A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH.

Published in:

Ultrasound in Obstetrics & Gynecology, 2012, v. 40, p. 182, doi. 10.1002/uog.11800

By:

Becher, N.;
Gjørup, V.;
Christensen, R.;
Ramsing, M.;
Petersen, O. B.;
Vogel, I.;
Vestergaard, E.

Publication type:

Article

P09.20: Femoral hypoplasia unusual facies syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 204, doi. 10.1002/uog.9744

By:

WooSuk, N.;
Song, Y.

Publication type:

Article

Macrodactyly with a complex glomuvenous malformation in congenital lipomatous overgrowth with vascular malformations, epidermal naevi and skeletal anomalies (CLOVES) syndrome.

Published in:

2018

By:

Song, Wangzhao;
Kwee, Thomas C.;
Suurmeijer, Albert J.

Publication type:

Case Study

Tongue-palatal contact changes in patients with skeletal mandibular prognathism after sagittal split ramus osteotomy: an electropalatography study.

Published in:

Journal of Oral Rehabilitation, 2017, v. 44, n. 9, p. 673, doi. 10.1111/joor.12530

By:

Kojima, S.;
Kaku, M.;
Yamamoto, I.;
Yasuhara, Y.;
Sumi, H.;
Yamamoto, T.;
Yashima, Y.;
Izumino, J.;
Nakajima, K.;
Nagano, Y.;
Kono, M.;
Yoshimura, A.;
Ueasa, M.;
Tanimoto, K.

Publication type:

Article

Skeletal and dental effects of Class III orthopaedic treatment: a systematic review and meta-analysis.

Published in:

Journal of Oral Rehabilitation, 2017, v. 44, n. 7, p. 545, doi. 10.1111/joor.12495

By:

Rongo, R.;
D'Antò, V.;
Bucci, R.;
Polito, I.;
Martina, R.;
Michelotti, A.

Publication type:

Article

Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer.

Published in:

Case Reports in Gastrointestinal Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/685459

By:

Mizrak, Dilsa;
Alkan, Ali;
Erdogdu, Batuhan;
Utkan, Gungor

Publication type:

Article

A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation.

Published in:

Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/8639617

By:

Sánchez, Ana Isabel;
Rojas, Jorge Armando

Publication type:

Article

Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 8, p. 3219, doi. 10.1007/s00431-024-05579-3

By:

Karaoglan, Murat;
Nacarkahya, Gulper;
Aytac, Emel Hatun;
Keskin, Mehmet

Publication type:

Article

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Published in:

2016

By:

Garavelli, Livia;
Maini, Ilenia;
Baccilieri, Federica;
Ivanovski, Ivan;
Pollazzon, Marzia;
Rosato, Simonetta;
Iughetti, Lorenzo;
Unger, Sheila;
Superti-Furga, Andrea;
Tartaglia, Marco

Publication type:

journal article

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1373, doi. 10.1007/s00431-014-2317-3

By:

Völter, Christiane;
Martínez, Ramón;
Hagen, Rudolf;
Kress, Wolfram

Publication type:

Article

Nevoid basal cell carcinoma syndrome with a unilateral giant ovarian fibroma in a Japanese 6-year-old girl.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 5, p. 667, doi. 10.1007/s00431-013-2200-7

By:

Jimbo, Takahiro;
Masumoto, Kouji;
Urita, Yasuhisa;
Takayasu, Hajime;
Shinkai, Toko;
Uesugi, Toru;
Gotoh, Chikashi;
Sakamoto, Naoya;
Sasaki, Takato;
Oto, Tatsuyuki;
Fukushima, Takashi;
Noguchi, Emiko;
Nakano, Yoshiro

Publication type:

Article

Expansion of Carraro syndrome or a new disorder?

Published in:

2010

By:

Sulko, Jerzy;
Miklaszewski, Krzysztof;
Podosek, Adam;
Kozlowski, Kazimierz

Publication type:

journal article

Genetic and Pharmacological Targeting of Transcriptional Repression in Resistance to Thyroid Hormone Alpha.

Published in:

Thyroid, 2019, v. 29, n. 5, p. 726, doi. 10.1089/thy.2018.0399

By:

Freudenthal, Bernard;
Shetty, Samiksha;
Butterfield, Natalie C.;
Logan, John G.;
Han, Cho Rong;
Zhu, Xuguang;
Astapova, Inna;
Hollenberg, Anthony N.;
Cheng, Sheue-Yann;
Bassett, J.H. Duncan;
Williams, Graham R.

Publication type:

Article

Rothmund–Thomson syndrome presenting with bullous eruption: A rare case report.

Published in:

Indian Journal of Paediatric Dermatology, 2019, v. 20, n. 3, p. 243, doi. 10.4103/ijpd.IJPD_104_18

By:

Tamta, Akshat;
Bist, Jitendra;
Gupta, Gunjan;
Saini, Sumeet;
Singh, Anant

Publication type:

Article

A girl with alopecia and skeletal deformities: Satoyoshi syndrome with review of literature.

Published in:

Indian Journal of Paediatric Dermatology, 2019, v. 20, n. 3, p. 236, doi. 10.4103/ijpd.IJPD_117_18

By:

Pandit, Vishalakshi;
Udaya, K

Publication type:

Article

Ichthyosis hystrix: An unusual presentation.

Published in:

2016

By:

Jairath, Vijayeeta;
Aggarwal, Parul;
Kaur, Sarabjit;
Jindal, Nidhi;
Jain, Vijay Kumar

Publication type:

Case Study

Cleidocranial Dysplasia: A Clinico-Radiological Illustration of a Rare Case.

Published in:

2014

By:

Kulkarni V. V.;
Baldawa, Prachi Shrigopal;
Nahar, Snehal Ravindra;
Desai, Sneha Pramod;
Chamele, Jay

Publication type:

Case Study

Bed Rest, Exercise Countermeasure and Reconditioning Effects on the Human Resting Muscle Tone System.

Published in:

Frontiers in Physiology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.00810

By:

Schoenrock, Britt;
Zander, Vanja;
Dern, Sebastian;
Limper, Ulrich;
Mulder, Edwin;
Veraksitš, Alar;
Viir, Ragnar;
Kramer, Andreas;
Stokes, Maria J.;
Salanova, Michele;
Peipsi, Aleko;
Blottner, Dieter

Publication type:

Article

Juvenile exposure to low-level 2,3,7,8-tetrachlorodibenzo- p -dioxin (TCDD) alters behavior and longitudinal morphometrics in zebrafish and F<sub>1</sub> offspring.

Published in:

Journal of Developmental Origins of Health & Disease, 2024, v. 15, p. 1, doi. 10.1017/S2040174424000229

By:

Meyer, Danielle N.;
Silva, Isabela;
Vo, Brianna;
Paquette, Amelia;
Blount, Jessica R.;
George, Serena E.;
Gonzalez, Gabrielle;
Cavaneau, Emma;
Khalaf, Aicha;
Petriv, Anna-Maria;
Wu, Chia-Chen;
Haimbaugh, Alex;
Baker, Tracie R.

Publication type:

Article

Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I.

Published in:

Hormone Research in Paediatrics, 2024, v. 97, n. 1, p. 28, doi. 10.1159/000530414

By:

Yan, Yaqin;
Huang, Shan;
Huang, Lianjing;
Zhang, Jingyi;
Li, Sujuan;
Zhang, Cai;
Luo, Xiaoping

Publication type:

Article

Gorlin-Goltz syndrome: A series of three cases.

Published in:

2014

By:

Patankar, Amod P.;
Kshirsagar, Rajesh A.;
Dugal, Arun;
Mishra, Akshay;
Ram, Hari

Publication type:

Case Study

Atypical corneal clouding in mucopolysaccharidoses.

Published in:

2023

By:

Stephen, Mary;
M., Loganathan;
S., Swathi;
B., Priyavadhana

Publication type:

Case Study

Palmoplantar Keratoderma with Keratoconus.

Published in:

Middle East African Journal of Ophthalmology, 2018, v. 25, n. 1, p. 49, doi. 10.4103/meajo.MEAJO_221_17

By:

Gupta, Ved Prakash;
Chaudhari, Isha

Publication type:

Article

Human skeletal development and feeding behavior: the impact on oxygen isotopes.

Published in:

Archaeological & Anthropological Sciences, 2017, v. 9, n. 7, p. 1453, doi. 10.1007/s12520-017-0486-5

By:

Tuross, Noreen;
Reynard, Linda M.;
Harvey, Elizabeth;
Coppa, Alfredo;
McCormick, Michael

Publication type:

Article

Study of the relationship between vitamin D deficiency, sunlight incidence and skeletal/extra skeletal diseases.

Published in:

Acta Scientiarum: Health Sciences, 2020, v. 42, n. 1, p. 1, doi. 10.4025/actascihealthsci.v42i1.50599

By:

Barros Câmara, Alice;
Augusto Brandão, Igor

Publication type:

Article

The funny-looking shoulders.

Published in:

2021

By:

Chan, Ling Yee Francis;
Ng, Hak Yung;
Chan, Tsz Wang Louis

Publication type:

journal article

Idiopathic Intracranial Hypertension in Two Patients With Alagille Syndrome.

Published in:

2010

By:

Mouzaki, Marialena;
Nichter, Charles;
Qureshi, Muhammad;
Rountree, Bart;
Furuya, Katryn N.

Publication type:

Case Study

Anesthetic management of a parturient with oculo-dento-digital (ODD) syndrome for emergency cesarean section.

Published in:

2024

By:

Tenzing, Emayah;
Arulprakasam, Santhosh;
Sanapala, Virinchi;
Parida, Satyen

Publication type:

Letter