Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
Autorzy:
Alge JL; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College Medicine, Houston, TX, 77030, USA. Bekheirnia N; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College Medicine, Houston, TX, 77030, USA. Willcockson AR; Reata Pharmaceuticals Inc, Plano, TX, 75024, USA. Qin X; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. Scherer SE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Braun MC; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College Medicine, Houston, TX, 77030, USA. BekheirniaMR; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Autorzy:
Cousin MA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. Veale EL; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK. Dsouza NR; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA. Tripathi S; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA. Holden RG; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK. Arelin M; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig, Germany. Beek G; Children's Hospital of Minnesota, Minneapolis, MN, USA. BekheirniaMR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Beygo J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. Bhambhani V; Children's Hospital of Minnesota, Minneapolis, MN, USA. Bialer M; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA. Bigoni S; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy. Boelman C; Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada. Carmichael J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK. Courtin T; Département of Genetics, APHP, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France. Cogne B; CHU Nantes, Service de génétique médicale, Nantes, France. Dabaj I; CHU de Rouen, Service de Néonatologie, Réanimation pédiatrique, Neuropédiatrie et éducation fonctionnelle de l'enfant, INSERM U 1245, ED497, 76000, Rouen, France.; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, Centre de Reference Nord-Est-Ile de France, 92380, Garches, France. Doummar D; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France. Fazilleau L; Service de Néonatologie, CHU de Caen, Caen, France. Ferlini A; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy. Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Graham JM Jr; Department of Pediatrics, Harbor-UCLA Medical Center, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. Haack TB; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Juusola J; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA. Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. Kayani S; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center and Children's Health, Dallas, TX, USA. Keren B; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France. Ketteler P; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Pediatrics III, Pediatric Oncology and Hematology, University Hospital Essen, Essen, Germany. Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. Koopmann TT; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Kruisselbrink TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. Lambert L; Service de Genetique Clinique, CHRU de Nancy, F-54000, Vandoeuvre-les-Nancy, France.; Unite INSERM N-GERE UMR_S 1256, Université de Lorraine, Faculté de Médecine, 9 avenue de la Forêt de Haye, CS 50184, Vandoeuvre-les-Nancy, France. Latypova X; CHU Nantes, Service de génétique médicale, Nantes, France. Lebel RR; Section of Medical Genetics, SUNY Upstate University Hospital, Syracuse, NY, USA. Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Leonardi E; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy. Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Liew W; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore. Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA. Mardini S; Division of Plastic and Reconstructive Surgery, Mayo Clinic, Rochester, MN, USA. McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA. Mignot C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France. McLaughlin J; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA. Murgia A; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy. Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA. Nava C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France. Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. Nizon M; CHU Nantes, Service de génétique médicale, Nantes, France. Ognibene D; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy. Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. Poirsier C; Department of Genetics, Reims University Hospital, Reims, France. Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA. Runke CK; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA. Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Shatin, Hong Kong SAR. Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MT, USA. Spranger S; Practice of Human Genetics, Bremen, Germany. Tan ES; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore. Taylor J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK. Trentesaux AS; Service de Néonatologie, CHU de Caen, Caen, France. Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA. Zadeh N; Genetics Center, Orange, CA, USA.; Division of Medical Genetics, CHOC Children's Hospital, Orange, CA, USA. Urrutia R; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA. Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Zimmermann MT; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA. .; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Human Research Center, Milwaukee, Wl, USA. .; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA. . Mathie A; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK. .; School of Engineering, Arts, Science and Technology, University of Suffolk, Ipswich, UK. . Klee EW; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. .; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. .; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. .
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Źródło:
Genome medicine [Genome Med] 2022 Jun 13; Vol. 14 (1), pp. 62. Date of Electronic Publication: 2022 Jun 13.
Lupus Nephritis, Autoantibody Production and Kidney Outcomes in Males with Childhood-Onset Systemic Lupus Erythematosus.
Autorzy:
Wenderfer SE; Division of Nephrology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; British Columbia Children's Hospital, Vancouver, BC V6H 3V4, Canada. Orjuela A; Division of Nephrology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA. BekheirniaMR; Division of Nephrology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA. Pereira M; Texas Children's Hospital, Houston, TX 77030, USA.; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Muscal E; Texas Children's Hospital, Houston, TX 77030, USA.; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Braun MC; Division of Nephrology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA. De Guzman M; Texas Children's Hospital, Houston, TX 77030, USA.; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
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Źródło:
Pediatric reports [Pediatr Rep] 2022 May 06; Vol. 14 (2), pp. 220-232. Date of Electronic Publication: 2022 May 06.
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Autorzy:
Rossetti LZ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. BekheirniaMR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA. Golden-Grant K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA. Tarczy-Hornoch K; Department of Ophthalmology, University of Washington, Seattle, WA, USA. Briere LC; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Sweetser DA; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA, USA. Kravets E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA. Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA. Bruenner G; Division of Medical Genetics, Department of Pediatrics, Cohen Children's Medical Center, Queens, NY, USA. Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA. Knapo J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA. Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Texas Children's Neurological Research Institute, Houston, TX, USA. Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Texas Children's Neurological Research Institute, Houston, TX, USA.
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Autorzy:
Shayota BJ; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Le NT; Baylor College of Medicine, Houston, TX, USA. Bekheirnia N; Texas Children's Hospital, Houston, TX, USA.; Baylor College of Medicine, Houston, TX, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Goldstein AC; Department of Pediatrics and Division of Child Neurology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Moritz M; Department of Pediatrics, Division of Nephrology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Bartholomew DW; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA. Pastore MT; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA. Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA. Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA. Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA. Lamb DJ; Baylor College of Medicine, Houston, TX, USA.; Department of Urology, Weill Cornell Medicine, New York, NY, USA. Scaglia F; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong SAR. Braun MC; Texas Children's Hospital, Houston, TX, USA.; Baylor College of Medicine, Houston, TX, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. BekheirniaMR; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor College of Medicine, Houston, TX, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
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