European journal of medical genetics

Keyphrases

Publications

volume 71, 2024

Liselot van der Laan, Lotte Kleinendorst, Johanna M van Hagen, Quinten Waisfisz, Mieke M van Haelst
Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review. European journal of medical genetics 71 (2024)
Chun-Hung Chan, David A Pearce
Demystifying gene(tic) therapies. European journal of medical genetics 71 (2024)
Eduardo Da Cás, Lucas V L Pires, Bianca D W Linnenkamp, Marcella C Allegro, Rachel S Honjo, Débora R Bertola, Hiromi Aoi, Naomichi Matsumoto, Chong Ae Kim
The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion. European journal of medical genetics 71 (2024)
Dillon Mintoff, Bettina Booker, Shannon Debono, Matthias Farrugia, Nikolai Paul Pace
Attitudes towards disclosure of familial genetic risk in a Mediterranean island population - A survey of the Maltese population. European journal of medical genetics 71 (2024)
Roger Esmel-Vilomara, Lucy Dougherty-De Miguel, Alícia Artigas-Baleri, Eulàlia Turón-Viñas, Ivon Cuscó, Asunción Díaz-Gómez, Luisa Panadés-De Oliveira, Rodrigo Rocamora, Susana Boronat
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy. European journal of medical genetics 71 (2024)
Lina Wu, Zhenkun Li, Yi Song, Yanmeng Li, Wei Zhang, Xuemei Zhong, Xiaoming Wang, Jian Huang, Xiaojuan Ou
Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome. European journal of medical genetics 71 (2024)

volume 70, 2024

Ian S Logan
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III. European journal of medical genetics 70 (2024)
Eugen Mengel, Maurizio Scarpa, Nathalie Guffon, Simon A Jones, Vishal Goriya, Jérôme Msihid, Valerie Dyevre, Carly Rodriguez, Maja Gasparic, Lubomyra Nalysnyk, Fernando Laredo, Ruth Pulikottil-Jacob
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study. European journal of medical genetics 70 (2024)
Hisato Suzuki, Yukako Muramatsu, Fuyuki Miya, Hideyuki Asada, Mamiko Yamada, Gen Nishimura, Kenjiro Kosaki, Toshiki Takenouchi
Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype(s). European journal of medical genetics 70 (2024)
Pernille A Gregersen, Peter S Jensen, Rikke Christensen, Dietmar Lohmann, Hilary Racher, Brenda Gallie, Steen F Urbak
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family. European journal of medical genetics 70 (2024)
David A Pearce
The history of the international rare diseases research consortium (IRDiRC) and its conferences. European journal of medical genetics 70 (2024)
Giampiero I Baroncelli, Anna Grandone, Antonio Aversa, Maria Rita Sessa, Caterina Pelosini, Angela Michelucci, Benedetta Toschi, Mario Manca, Alessandro Isola, Pasquale Comberiati
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets. European journal of medical genetics 70 (2024)
Eugen Mengel, Maurizio Scarpa, Nathalie Guffon, Simon A Jones, Vishal Goriya, Jérôme Msihid, Valerie Dyevre, Carly Rodriguez, Maja Gasparic, Lubomyra Nalysnyk, Fernando Laredo, Ruth Pulikottil-Jacob
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study. European journal of medical genetics 70 (2024)
David R Adams, Clara D M van Karnebeek, Sergi Beltran Agulló, Víctor Faùndes, Saumya Shekhar Jamuar, Sally Ann Lynch, Guillem Pintos-Morell, Ratna Dua Puri, Ruty Shai, Charles A Steward, Biruté Tumiene, Alain Verloes, null null
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee. European journal of medical genetics 70 (2024)
Giampiero I Baroncelli, Anna Grandone, Antonio Aversa, Maria Rita Sessa, Caterina Pelosini, Angela Michelucci, Benedetta Toschi, Mario Manca, Alessandro Isola, Pasquale Comberiati
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets. European journal of medical genetics 70 (2024)
Hisato Suzuki, Yukako Muramatsu, Fuyuki Miya, Hideyuki Asada, Mamiko Yamada, Gen Nishimura, Kenjiro Kosaki, Toshiki Takenouchi
Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype. European journal of medical genetics 70 (2024)
Eugen Mengel, Maurizio Scarpa, Nathalie Guffon, Simon A Jones, Vishal Goriya, Jérôme Msihid, Valerie Dyevre, Carly Rodriguez, Maja Gasparic, Lubomyra Nalysnyk, Fernando Laredo, Ruth Pulikottil-Jacob
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study. European journal of medical genetics 70 (2024)
David R Adams, Clara D M van Karnebeek, Sergi Beltran Agulló, Víctor Faùndes, Saumya Shekhar Jamuar, Sally Ann Lynch, Guillem Pintos-Morell, Ratna Dua Puri, Ruty Shai, Charles A Steward, Biruté Tumiene, Alain Verloes, null null
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee. European journal of medical genetics 70 (2024)
Bingju Liu, Yunfeng Lu, Qi Wang, Yunpeng Dai, Liying Liu
Cancer in 22q11.2 deletion syndrome: A case report and literature review. European journal of medical genetics 70 (2024)
Ian S Logan
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III. European journal of medical genetics 70 (2024)
Bingju Liu, Yunfeng Lu, Qi Wang, Yunpeng Dai, Liying Liu
Cancer in 22q11.2 deletion syndrome: A case report and literature review. European journal of medical genetics 70 (2024)
Jamal Manoochehri, Amirmasoud Shiri, Somayeh Khoddam, Maryam Aghasipour, Neda Kamal, Hossein Jafari Khamirani, Seyed Alireza Dastgheib, Mehdi Dianatpour, Seyed Mohammad Bagher Tabei
Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review. European journal of medical genetics 70 (2024)
Meggie M C M Drissen, Janet R Vos, Estel Collado Camps, Janneke H M Schuurs-Hoeijmakers, Jolanda H Schieving, Nicoline Hoogerbrugge
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome. European journal of medical genetics 70 (2024)
Meggie M C M Drissen, Janet R Vos, Estel Collado Camps, Janneke H M Schuurs-Hoeijmakers, Jolanda H Schieving, Nicoline Hoogerbrugge
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome. European journal of medical genetics 70 (2024)
David A Pearce
The history of the international rare diseases research consortium (IRDiRC) and its conferences. European journal of medical genetics 70 (2024)
Jamal Manoochehri, Amirmasoud Shiri, Somayeh Khoddam, Maryam Aghasipour, Neda Kamal, Hossein Jafari Khamirani, Seyed Alireza Dastgheib, Mehdi Dianatpour, Seyed Mohammad Bagher Tabei
Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review. European journal of medical genetics 70 (2024)
Pernille A Gregersen, Peter S Jensen, Rikke Christensen, Dietmar Lohmann, Hilary Racher, Brenda Gallie, Steen F Urbak
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family. European journal of medical genetics 70 (2024)

volume 69, 2024

Audrey Mohr, Maria Eugenia Marques Da Costa, Olivia Fromigue, Baptiste Audinot, Thierno Balde, Robin Droit, Samuel Abbou, Pierre Khneisser, Pablo Berlanga, Esperanza Perez, Antonin Marchais, Nathalie Gaspar
From biology to personalized medicine: Recent knowledge in osteosarcoma. European journal of medical genetics 69 (2024)
Fiona Leduc, Thomas Smol, Benoit Catteau, Odile Boute, Florence Petit
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature. European journal of medical genetics 69 (2024)
Laura Krogh Herlin, Morten Krogh Herlin, Jenny Blechingberg, Kirsten Rønholt, Lise Graversen, Sigrun A J Schmidt, Mette Warming Jørgensen, Michel Bach Hellfritzsch, Jannie Dahl Hald, Signe Sparre Beck-Nielsen, Hans Gjørup, Brian Nauheimer Andersen, Pernille Axél Gregersen, Mette Sommerlund
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants. European journal of medical genetics 69 (2024)
Thomas Funck-Brentano, M Carola Zillikens, Gavin Clunie, Heide Siggelkow, Natasha M Appelman-Dijkstra, Martine Cohen-Solal
Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND. European journal of medical genetics 69 (2024)
Leyla Kara, Dilek Cicek, Ulku Gul Siraz, Murat Erdogan, Emre Sarikaya, Ebru Gok, Ugur Berber, Selim Kurtoglu, Mustafa Kendirci, Nihal Hatipoglu
Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male. European journal of medical genetics 69 (2024)
Xiaoshan Yin, Yiming Lin, Ting Zhang, Haixia Miao, Lingwei Hu, Zhenzhen Hu, Dou Zhou, Benqing Wu, Xinwen Huang
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS. European journal of medical genetics 69 (2024)
Ralah Alharbi, Anna Suchet-Dechaud, Inès Harzallah, Renaud Touraine, Francis Ramond
Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature. European journal of medical genetics 69 (2024)
Ieva Tėvelytė, Paulius Bertašius, Kristina Aleknavičienė, Rimvydas Jonikas, Justina Klimaitė, Edita Jašinskienė, Rasa Traberg
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant. European journal of medical genetics 69 (2024)
Mio Matsumoto, Momoko Oyake, Tomoyo Itonaga, Miwako Maeda, Soichi Suenobu, Daichi Sato, Yoji Sasahara, Hiroyuki Mishima, Koh-Ichiro Yoshiura, Kenji Ihara
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood. European journal of medical genetics 69 (2024)
Jasper J van der Smagt, Angeliki P Lampri, Iris de Lange, Mariëlle Alders, Michiel L Houben, Marco J Koudijs, Richard H van Jaarsveld
Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey. European journal of medical genetics 69 (2024)
Yousaf Abughofah, Andrew J Witten, Ahmed Belal, Saul Wilson
Atlantoaxial dislocation in the setting of NMLFS. European journal of medical genetics 69 (2024)
L Tonelli, M Sanchini, A Margutti, B Buldrini, A Superti-Furga, A Ferlini, R Selvatici, S Bigoni
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype. European journal of medical genetics 69 (2024)
Konstantinos Kolokotronis, Aude-Annick Suter, Ivan Ivanovski, Tanja Frey, Angela Bahr, Anita Rauch, Katharina Steindl
DPF2-related Coffin-Siris syndrome type 7 in two generations. European journal of medical genetics 69 (2024)
Andre Mégarbané, Cybel Mehawej, Daniel Mahfoud, Eliane Chouery, Koenraad Devriendt, Mariam Hijazi, Seung W Ryu, JiHye Kim, Alisdair McNeill
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype. European journal of medical genetics 69 (2024)
Audrey Mohr, Maria Eugenia Marques Da Costa, Olivia Fromigue, Baptiste Audinot, Thierno Balde, Robin Droit, Samuel Abbou, Pierre Khneisser, Pablo Berlanga, Esperanza Perez, Antonin Marchais, Nathalie Gaspar
From biology to personalized medicine: Recent knowledge in osteosarcoma. European journal of medical genetics 69 (2024)
Haiyan Yang, Hongmei Liao, Siyi Gan, Ting Xiao, Liwen Wu
A novel splicing variant in MICAL-1 gene is associated with epilepsy. European journal of medical genetics 69 (2024)
Fiona Leduc, Thomas Smol, Benoit Catteau, Odile Boute, Florence Petit
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature. European journal of medical genetics 69 (2024)
Mio Matsumoto, Momoko Oyake, Tomoyo Itonaga, Miwako Maeda, Soichi Suenobu, Daichi Sato, Yoji Sasahara, Hiroyuki Mishima, Koh-Ichiro Yoshiura, Kenji Ihara
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood. European journal of medical genetics 69 (2024)
Laura Krogh Herlin, Morten Krogh Herlin, Jenny Blechingberg, Kirsten Rønholt, Lise Graversen, Sigrun A J Schmidt, Mette Warming Jørgensen, Michel Bach Hellfritzsch, Jannie Dahl Hald, Signe Sparre Beck-Nielsen, Hans Gjørup, Brian Nauheimer Andersen, Pernille Axél Gregersen, Mette Sommerlund
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants. European journal of medical genetics 69 (2024)
Ieva Tėvelytė, Paulius Bertašius, Kristina Aleknavičienė, Rimvydas Jonikas, Justina Klimaitė, Edita Jašinskienė, Rasa Traberg
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant. European journal of medical genetics 69 (2024)
Natalie Ciantar, Graziella Zahra, Julian Delicata, Fiona Sammut, Jean Calleja-Agius, Emanuel Farrugia, Edith Said
Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta. European journal of medical genetics 69 (2024)
Konstantinos Kolokotronis, Aude-Annick Suter, Ivan Ivanovski, Tanja Frey, Angela Bahr, Anita Rauch, Katharina Steindl
DPF2-related Coffin-Siris syndrome type 7 in two generations. European journal of medical genetics 69 (2024)
Jean-Luc Alessandri, Tristan Celse, Marta Spodenkiewicz, Anais Calaya, Coralie Dumont, Marie-Line Jacquemont, Bénédicte Bertaut-Nativel, Brahim Boumahni, Mathilde Rémy, Fanny Ferroul, Suzie Guilly, Thomas Huby, Mireille Irabé, Tiffany Laurens, Patrick Munier, Godelieve Morel, Frédérique Payet, Hanitra Randrianaivo, Bérénice Doray, Jessica Dospeux
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy). European journal of medical genetics 69 (2024)