换一批The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
第一作者：
Lucie,Levaillant
第一单位：
Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France.;Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.
作者：
Lucie,Levaillant [1]
;
Natacha,Bouhours-Nouet [1]
;
Frédéric,Illouz [2]
;
Jessica,Amsellem Jager [1]
;
Anne,Bachelot [3]
;
Pascal,Barat [4]
;
Sabine,Baron [5]
;
Candace,Bensignor [6]
;
Aude,Brac De La Perriere [7]
;
Yasmine,Braik Djellas [3]
;
Morgane,Caillot [8]
;
Emmanuelle,Caldagues [5]
;
Marie-Neige,Campas [9]
;
Marylène,Caquard [5]
;
Audrey,Cartault [10]
;
Julie,Cheignon [11]
;
Anne,Decrequy [11]
;
Brigitte,Delemer [12]
;
Katherine,Dieckmann [13]
;
Aurélie,Donzeau [11]
;
Emilie,Doye [14]
;
Mélanie,Fradin [15]
;
Mélanie,Gaudillière [7]
;
Frédérique,Gatelais [16]
;
Magali,Gorce [17]
;
Isabelle,Hazart [5]
;
Nada,Houcinat [18]
;
Laure,Houdon [19]
;
Marielle,Ister-Salome [20]
;
Lucie,Jozwiak [21]
;
Patrick,Jeannoel [22]
;
Francois,Labarthe [23]
;
Didier,Lacombe [24]
;
Anne-Sophie,Lambert [25]
;
Christine,Lefevre [20]
;
Bruno,Leheup [26]
;
Clara,Leroy [27]
;
Benedicte,Maisonneuve [28]
;
Isis,Marchand [29]
;
Emeline,Marquant [30]
;
Matthias,Muszlak [31]
;
Letitia,Pantalone [32]
;
Sandra,Pochelu [4]
;
Chloé,Quelin [15]
;
Catherine,Radet [33]
;
Peggy,Renoult-Pierre [34]
;
Rachel,Reynaud [30]
;
Stéphanie,Rouleau [11]
;
Cécile,Teinturier [25]
;
Julien,Thevenon [35]
;
Caroline,Turlotte [36]
;
Aline,Valle [37]
;
Melody,Vierge [30]
;
Carine,Villanueva [7]
;
Alban,Ziegler [17]
;
Xavier,Dieu [38]
;
Nathalie,Bouzamondo [38]
;
Patrice,Rodien [2]
;
Delphine,Prunier-Mirebeau [38]
;
Régis,Coutant [1]
作者单位：
Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France.;Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.
[1]
Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.;Department of Endocrinology, Diabetes and Nutrition, University Hospital of Angers, 49000 Angers, France.
[2]
Department of Endocrinology and Reproductive Medicine, Hôpital Pitié-Salpêtrière, ICAN, 75651 Paris, France.
[3]
Pediatric Endocrinology, CHU de Bordeaux, 33000 Bordeaux, France.
[4]
Pediatrics Department, CHU Nantes, 44000 Nantes, France.
[5]
Pediatrics Department, CHU de Dijon, 21000 Dijon, France.
[6]
Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique, 69677 Bron, France.
[7]
Pediatrics Department, CH de Martigues, 13500 Martigues, France.
[8]
Pediatrician, 64445 Pau, France.
[9]
Endocrine, Genetics, Bone Diseases, and Paediatric Gynecology Unit, Children's Hospital, CHU Toulouse, 31059 Toulouse, France.
[10]
Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France.
[11]
Department of Endocrinology, Diabetes and Nutrition, CHU de Reims-Hôpital Robert-Debré, 51100 Reims, France.
[12]
Pediatrics Department, CH de Blois, 41000 Blois, France.
[13]
Pediatrician, 69130 Ecully, France.
[14]
Service de Génétique, CLAD Ouest, CHU Rennes, 35200 Rennes, France.
[15]
Pediatrician, 49000 Angers, France.
[16]
Service de Génétique, 49000 Angers Cedex 9, France.
[17]
CHU Dijon, Centre de référence maladies rares Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD, CHU Dijon Bourgogne 21000, France.
[18]
Pediatric Diabetology, University Hospital, St Pierre de la Reunion 97410, France.
[19]
Pediatric Endocrinology, Jeanne de Flandre Hospital, 59037 Lille, France.
[20]
Pediatrics Department, CH de Roubaix, 59100 Roubaix, France.
[21]
Pediatrics Department, CH de Roanne, 42328 Roanne, France.
[22]
Reference Center for Inborn Errors of Metabolism, Tours University Hospital, 37044 Tours, France.
[23]
Department of Medical Genetics, CHU Bordeaux INSERM U1211, Université de Bordeaux, 33076 Bordeaux, France.
[24]
AP-HP, Bicêtre Paris Saclay Hospital, DMU SEA, Endocrinology and Diabetes for Children, Le Kremlin Bicêtre 94270, France.
[25]
Service de Génétique clinique, Höpital Brabois, Centre Hospitalier Universitaire de Nancy, Nancy, Lorraine 54500, France.
[26]
Service d'Endocrinologie et Maladies Métaboliques, Centre Hospitalier Régional Universitaire de Lille, Hôpital Huriez, 59037 Lille, France.
[27]
Pediatrics Department, CH de Montlucon, 03100 Montlucon, France.
[28]
Pediatrics Department, CHI de Créteil, 94010 Créteil, France.
[29]
Assistance-Publique des Hôpitaux de Marseille, Department of Pediatrics, Hôpital de la Timone Enfants, 13005 Marseille, France.
[30]
Pediatrics Department, CH de Mayotte, 97600 Mayotte, France.
[31]
Pediatrics Department, CH René Dubos, 95300 Pontoise, France.
[32]
Pediatrics Department, CH de Cholet, 49300 Cholet, France.
[33]
Service de Médecine Interne, Unité d'Endocrinologie Diabétologie et Nutrition, Centre Hospitalier Universitaire et Faculté de Médecine, Université de Tours, 37044 Tours, France.
[34]
Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, and FHU-TRANSLAD, CHU/Université de Bourgogne-Franche Comté, 21000 Dijon, France.
[35]
Pediatrics Department, CH d'Armentieres, 59280 Armentieres, France.
[36]
Pediatrics Department, CH de Douai, 59187 Douai, France.
[37]
Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.;Biochemistry and Molecular Biology Laboratory, University Hospital of Angers, 49000 Angers, France.
[38]
医学主题词
人类(Humans);先天性甲状腺功能减退症(Congenital Hypothyroidism);突变(Mutation);基因组学(Genomics);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing)
DOI
10.1210/clinem/dgad119
PMID
36884306
发布时间
2023-08-23
- 浏览3
The Journal of clinical endocrinology and metabolism
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