ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature (Englisch)
- Neue Suche nach: Kushary, Sulagna Tina
- Neue Suche nach: Revah‐Politi, Anya
- Neue Suche nach: Barua, Subit
- Neue Suche nach: Ganapathi, Mythily
- Neue Suche nach: Accogli, Andrea
- Neue Suche nach: Aggarwal, Vimla
- Neue Suche nach: Brunetti‐Pierri, Nicola
- Neue Suche nach: Cappuccio, Gerarda
- Neue Suche nach: Capra, Valeria
- Neue Suche nach: Fagerberg, Christina R.
- Neue Suche nach: Gazdagh, Gabriella
- Neue Suche nach: Guzman, Edwin
- Neue Suche nach: Hadonou, Medard
- Neue Suche nach: Harrison, Victoria
- Neue Suche nach: Havelund, Kathrine
- Neue Suche nach: Iancu, Daniela
- Neue Suche nach: Kraus, Alison
- Neue Suche nach: Lippa, Natalie C.
- Neue Suche nach: Mansukhani, Mahesh
- Neue Suche nach: McBrian, Danielle
- Neue Suche nach: McEntagart, Meriel
- Neue Suche nach: Pacio‐Míguez, Marta
- Neue Suche nach: Palomares‐Bralo, María
- Neue Suche nach: Pottinger, Carrie
- Neue Suche nach: Ruivenkamp, Claudia A. L.
- Neue Suche nach: Sacco, Oliviero
- Neue Suche nach: Santen, Gijs W. E.
- Neue Suche nach: Santos‐Simarro, Fernando
- Neue Suche nach: Scala, Marcello
- Neue Suche nach: Short, John
- Neue Suche nach: Sørensen, Kristina P.
- Neue Suche nach: Woods, Christopher G.
- Neue Suche nach: Anyane Yeboa, Kwame
- Neue Suche nach: DDD Study
- Neue Suche nach: TUDP Consortium
- Neue Suche nach: Kushary, Sulagna Tina
- Neue Suche nach: Revah‐Politi, Anya
- Neue Suche nach: Barua, Subit
- Neue Suche nach: Ganapathi, Mythily
- Neue Suche nach: Accogli, Andrea
- Neue Suche nach: Aggarwal, Vimla
- Neue Suche nach: Brunetti‐Pierri, Nicola
- Neue Suche nach: Cappuccio, Gerarda
- Neue Suche nach: Capra, Valeria
- Neue Suche nach: Fagerberg, Christina R.
- Neue Suche nach: Gazdagh, Gabriella
- Neue Suche nach: Guzman, Edwin
- Neue Suche nach: Hadonou, Medard
- Neue Suche nach: Harrison, Victoria
- Neue Suche nach: Havelund, Kathrine
- Neue Suche nach: Iancu, Daniela
- Neue Suche nach: Kraus, Alison
- Neue Suche nach: Lippa, Natalie C.
- Neue Suche nach: Mansukhani, Mahesh
- Neue Suche nach: McBrian, Danielle
- Neue Suche nach: McEntagart, Meriel
- Neue Suche nach: Pacio‐Míguez, Marta
- Neue Suche nach: Palomares‐Bralo, María
- Neue Suche nach: Pottinger, Carrie
- Neue Suche nach: Ruivenkamp, Claudia A. L.
- Neue Suche nach: Sacco, Oliviero
- Neue Suche nach: Santen, Gijs W. E.
- Neue Suche nach: Santos‐Simarro, Fernando
- Neue Suche nach: Scala, Marcello
- Neue Suche nach: Short, John
- Neue Suche nach: Sørensen, Kristina P.
- Neue Suche nach: Woods, Christopher G.
- Neue Suche nach: Anyane Yeboa, Kwame
- Neue Suche nach: DDD Study
- Neue Suche nach: TUDP Consortium
In:
American Journal of Medical Genetics Part A
;
185
, 12
;
3740-3753
;
2021
- Aufsatz (Zeitschrift) / Elektronische Ressource
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Titel:ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
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Beteiligte:Kushary, Sulagna Tina ( Autor:in ) / Revah‐Politi, Anya ( Autor:in ) / Barua, Subit ( Autor:in ) / Ganapathi, Mythily ( Autor:in ) / Accogli, Andrea ( Autor:in ) / Aggarwal, Vimla ( Autor:in ) / Brunetti‐Pierri, Nicola ( Autor:in ) / Cappuccio, Gerarda ( Autor:in ) / Capra, Valeria ( Autor:in ) / Fagerberg, Christina R. ( Autor:in )
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Erschienen in:American Journal of Medical Genetics Part A ; 185, 12 ; 3740-3753
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Verlag:
- Neue Suche nach: John Wiley & Sons, Inc.
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Erscheinungsdatum:01.12.2021
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Format / Umfang:14 pages
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ISSN:
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DOI:
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Medientyp:Aufsatz (Zeitschrift)
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Format:Elektronische Ressource
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Sprache:Englisch
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Schlagwörter:
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Datenquelle:
Inhaltsverzeichnis – Band 185, Ausgabe 12
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Table of Contents, Volume 185A, Number 12, December 2021| 2021
- 3525
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Publication schedule for 2021| 2021
- 3526
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Long‐Read Sequencing Could Increase Diagnosis Rates| 2021
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The Road to Greater Diversity in the Genomics Workforce| 2021
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In This Issue| 2021
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Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXYTosi, Laura / Mitchell, Francie / Porter, Grace F. / Ruland, Leigh / Gropman, Andrea / Lasutschinkow, Patricia C. / Tran, Selena L. / Rajah, Elmer N. / Gillies, Austin P. / Hendrie, Patricia et al. | 2021
- 3541
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Neurocognitive development and capabilities in boys with 49,XXXXY syndromeGropman, Andrea L. / Porter, Grace F. / Lasutschinkow, Patricia C. / Sadeghin, Teresa / Tipton, Elizabeth S. / Powell, Sherida / Samango‐Sprouse, Carole A. et al. | 2021
- 3547
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Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndromeCounts, Debra R. / Yu, Christine / Lasutschinkow, Patricia C. / Sadeghin, Teresa / Gropman, Andrea / Samango‐Sprouse, Carole A. et al. | 2021
- 3554
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Introduction: Comprehensive investigation into an international cohort of boys with 49,XXXXYSamango‐Sprouse, Carole A. / Gropman, Andrea L. et al. | 2021
- 3557
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49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorderSamango‐Sprouse, Carole / Lasutschinkow, Patricia C. / Mitchell, Francie / Porter, Grace F. / Hendrie, Patricia / Powell, Sherida / Sadeghin, Teresa / Gropman, Andrea et al. | 2021
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Speech and language development in children with 49,XXXXY syndromeSamango‐Sprouse, Carole A. / Lasutschinkow, Patricia C. / McLeod, Michael / Porter, Grace F. / Powell, Sherida / St. Laurent, Jillyan / Sadeghin, Teresa / Gropman, Andrea L. et al. | 2021
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Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndromeSchwartz, David D. / Fein, Rachel H. / Carvalho, Claudia M. B. / Sutton, V. Reid / Mazzeu, Juliana F. / Axelrad, Marni E. et al. | 2021
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Extremity anomalies associated with Robinow syndromeAbu‐Ghname, Amjed / Trost, Jeffrey / Davis, Matthew J. / Sutton, V. Reid / Zhang, Chaofan / Guillen, Diana E. / Carvalho, Claudia M. B. / Maricevich, Renata S. et al. | 2021
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndromeZhang, Chaofan / Mazzeu, Juliana F. / Eisfeldt, Jesper / Grochowski, Christopher M. / White, Janson / Akdemir, Zeynep C. / Jhangiani, Shalini N. / Muzny, Donna M. / Gibbs, Richard A. / Lindstrand, Anna et al. | 2021
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Robinow syndrome: Genital analysis, genetic heterogeneity, and associated psychological impactGerber, Jonathan A. / Sheth, Kunj R. / Austin, Paul F. et al. | 2021
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Craniofacial phenotypes associated with Robinow syndromeConlon, Christopher J. / Abu‐Ghname, Amjed / Raghuram, Anjali C. / Davis, Matthew J. / Guillen, Diana E. / Sutton, V. Reid / Carvalho, Claudia M. B. / Maricevich, Renata S. et al. | 2021
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Samia TemtamyS. Aglan, Mona / S. Zaki, Maha et al. | 2021
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Delivering a new diagnosis of Down syndrome: Parent experienceLehman, April / Leach, Mark / Santoro, Stephanie L. et al. | 2021
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Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1Uludağ Alkaya, Dilek / Lissewski, Christina / Yeşil, Gözde / Zenker, Martin / Tüysüz, Beyhan et al. | 2021
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Personal utility of genomic sequencing for infants with congenital deafnessTutty, Erin / Amor, David J. / Jarmolowicz, Anna / Paton, Kate / Downie, Lilian et al. | 2021
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Functional analysis of novel genetic variants of NKX2‐5 associated with nonsyndromic congenital heart diseaseDixit, Ritu / Narasimhan, Chitra / Balekundri, Vijayalakshmi I. / Agrawal, Damyanti / Kumar, Ashok / Mohapatra, Bhagyalaxmi et al. | 2021
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Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young childrenKuiper, Kimberly / Swaab, Hanna / Tartaglia, Nicole / van Rijn, Sophie et al. | 2021
- 3675
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Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasiaWade, Emma M. / Jenkins, Zandra A. / Morgan, Tim / Gimenez, Gregory / Gibson, Hayley / Peng, Hui / Sanchez Russo, Rossana / Skraban, Cara M. / Bedoukian, Emma / Robertson, Stephen P. et al. | 2021
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Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal studyBisgaard, Anne‐Marie / Wong, Kingsley / Højfeldt, Anne‐Katrine / Larsen, Jane Lunding / Schönewolf‐Greulich, Bitten / Rønde, Gitte / Downs, Jenny / Stahlhut, Michelle et al. | 2021
- 3694
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Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequenceWenger, Tara L. / Perkins, Jonathan / Parish‐Morris, Julia / Hing, Anne V. / Chen, Maida L. / Cielo, Christopher M. / Li, Dong / Bhoj, Elizabeth J. / Hakonarson, Hakon / Zackai, Elaine et al. | 2021
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Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the Face2Gene applicationSrisraluang, Wewika / Rojnueangnit, Kitiwan et al. | 2021
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Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort studyKenborg, Line / Andersen, Elisabeth W. / Duun‐Henriksen, Anne Katrine / Jepsen, Jens R. M. / Doser, Karoline / Dalton, Susanne O. / Bidstrup, Pernille E. / Krøyer, Anja / Frederiksen, Line E. / Johansen, Christoffer et al. | 2021
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Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A)Iannaccone, Alessandro / Brewer, Carmen C. / Cheng, Peiyao / Duncan, Jacque L. / Maguire, Maureen G. / Audo, Isabelle / Ayala, Allison R. / Bernstein, Paul S. / Bidelman, Gavin M. / Cheetham, Janet K. et al. | 2021
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureKushary, Sulagna Tina / Revah‐Politi, Anya / Barua, Subit / Ganapathi, Mythily / Accogli, Andrea / Aggarwal, Vimla / Brunetti‐Pierri, Nicola / Cappuccio, Gerarda / Capra, Valeria / Fagerberg, Christina R. et al. | 2021
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Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophyRuiz Maya, Tania / Fettig, Veronica / Mehta, Lakshmi / Gelb, Bruce D. / Kontorovich, Amy R. et al. | 2021
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Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypesStrong, Alanna / Skraban, Cara / Meyers, Kevin / Amaral, Sandra / Furth, Susan / Drant, Stacey / Hsiao, Wendy / Galea, Lauren / Gold, Jessica / Gold, Nina B. et al. | 2021
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Neuroimaging in Kabuki syndrome and another KMT2D‐related disorderStadelmaier, Rachel T. / Kenna, Margaret A. / Barrett, Devon / Mullen, Thomas E. / Bodamer, Olaf / Agrawal, Pankaj B. / Robson, Caroline D. / Wojcik, Monica H. et al. | 2021
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Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genesKolvenbach, Caroline M. / van der Ven, Amelie T. / Kause, Franziska / Shril, Shirlee / Scala, Marcello / Connaughton, Dervla M. / Mann, Nina / Nakayama, Makiko / Dai, Rufeng / Kitzler, Thomas M. et al. | 2021
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The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohortHeikoop, David / Brick, Lauren / Chitayat, David / Colaiacovo, Samantha / Dupuis, Lucie / Faghfoury, Hanna / Goobie, Sharan / Mendoza, Roberto / Napier, Melanie / Nowaczyk, Margaret et al. | 2021
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A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patternsHeide, Ev‐Christin / Puk, Oliver / Biskup, Saskia / Krahn, Arne / Rauf, Erik / Kreilkamp, Barbara A. K. / Paulus, Walter / Focke, Niels K. et al. | 2021
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5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndromeBayat, Allan / Bayat, Michael / Broers, Chantal / Polstra, Abeltje M. / Zwijnenburg, Petra J. G. / Hjortshøj, Tina Duelund et al. | 2021
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PLXNA2 as a candidate gene in patients with intellectual disabilityAltuame, Fadie D. / Shamseldin, Hanan E. / Albatti, Turki H. / Hashem, Mais / Ewida, Nour / Abdulwahab, Firdous / Alkuraya, Fowzan S. et al. | 2021
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Autophagic defects observed in fibroblasts from a patient with β‐propeller protein‐associated neurodegenerationLee, Jae‐Hyeok / Nam, Sang Ook / Kim, Eun Kyoung / Shin, Jin‐Hong / Oh, Seung Hwan / Ryu, Dongryeol / Lee, Hye Eun / Mun, Ji Young et al. | 2021
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The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case reportVillabona, Carles / Oriola, Josep / Serrano, Teresa / Guerrero‐Pérez, Fernando / Valdés, Nuria / Chiara, Mariló / Robledo, Mercedes et al. | 2021
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Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutationJobic, Florence / Lacot‐Leriche, Emilie / Piton, Amélie / Le Moing, Anne‐Gaëlle / Mathieu‐Dramard, Michèle / Costantini, Sara / Morin, Gilles / Jedraszak, Guillaume et al. | 2021
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Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic reviewCooley Coleman, Jessica A. / Sarasua, Sara M. / Boccuto, Luigi / Moore, Hannah Warren / Skinner, Steven A. / DeLuca, Jane M. et al. | 2021
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Juvenile xanthogranuloma: A possible diagnostic criterion for Neurofibromatosis type 1 in young childrenCalligaris, Lorenzo / Cortellazzo Wiel, Luisa / Sartor, Emma / Berti, Irene / Bruno, Irene / Barbi, Egidio / Magnolato, Andrea et al. | 2021
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Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndromeCasas‐Alba, Dídac / Nolasco, Gregorio Alexander / Díez‐Juan, María / Mezzatesta, Marcela / Balañá, Gemma / Fons, Carmen et al. | 2021
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Detailed clinical and radiological features of the first patient with Elsahy–Waters syndrome in East AsiaMinatogawa, Mari / Tsukahara, Yoshinori / Yuzuriha, Shunsuke / Kosho, Tomoki et al. | 2021
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Cover Image, Volume 185A, Number 12, December 2021| 2021