First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection (English)
- New search for: Moreno‐García, Marta
- New search for: Arteche‐López, Ana Rosa
- New search for: Álvarez‐Mora, María Isabel
- New search for: Palma Milla, Carmen
- New search for: Quesada Espinosa, Juan Francisco
- New search for: Lezana Rosales, José Miguel
- New search for: Sánchez Calvín, María Teresa
- New search for: Gómez Manjón, Irene
- New search for: Gómez Rodríguez, María José
- New search for: Mendez‐Guerrero, Antonio
- New search for: Villarejo‐Galende, Alberto
- New search for: Moreno‐García, Marta
- New search for: Arteche‐López, Ana Rosa
- New search for: Álvarez‐Mora, María Isabel
- New search for: Palma Milla, Carmen
- New search for: Quesada Espinosa, Juan Francisco
- New search for: Lezana Rosales, José Miguel
- New search for: Sánchez Calvín, María Teresa
- New search for: Gómez Manjón, Irene
- New search for: Gómez Rodríguez, María José
- New search for: Mendez‐Guerrero, Antonio
- New search for: Villarejo‐Galende, Alberto
In:
American Journal of Medical Genetics Part A
;
185
, 2
;
591-595
;
2021
- Article (Journal) / Electronic Resource
-
Title:First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
-
Contributors:Moreno‐García, Marta ( author ) / Arteche‐López, Ana Rosa ( author ) / Álvarez‐Mora, María Isabel ( author ) / Palma Milla, Carmen ( author ) / Quesada Espinosa, Juan Francisco ( author ) / Lezana Rosales, José Miguel ( author ) / Sánchez Calvín, María Teresa ( author ) / Gómez Manjón, Irene ( author ) / Gómez Rodríguez, María José ( author ) / Mendez‐Guerrero, Antonio ( author )
-
Published in:American Journal of Medical Genetics Part A ; 185, 2 ; 591-595
-
Publisher:
- New search for: John Wiley & Sons, Inc.
-
Publication date:2021-02-01
-
Size:5 pages
-
ISSN:
-
DOI:
-
Type of media:Article (Journal)
-
Type of material:Electronic Resource
-
Language:English
-
Keywords:
-
Source:
Table of contents – Volume 185, Issue 2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 305
-
Table of Contents, Volume 185A, Number 2, February 2021| 2021
- 313
-
Publication schedule for 2021| 2021
- 314
-
Genome Research Institute Identifies Vision for the Future| 2021
- 315
-
Gpr12 Linked to Short‐Term Memory| 2021
- 317
-
In This Issue| 2021
- 319
-
Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945–2020)Pierpont, Elizabeth I. / Berry, Susan A. / Lin, Angela E. / Lohr, Jamie L. / Schimmenti, Lisa A. / Dobyns, William B. et al. | 2021
- 324
-
Genetic control of tumor development in malformation syndromesPostema, Floor A.M. / Oosterwijk, Jan C. / Hennekam, Raoul C. et al. | 2021
- 336
-
Neonatal complications of Down syndrome and factors necessitating intensive careSeither, Katelyn / Tabbah, Sammy / Tadesse, Dawit G. / Suhrie, Kristen R. et al. | 2021
- 344
-
Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutationsSprute, Rosanne / Jergas, Hannah / Ölmez, Akgün / Alawbathani, Salem / Karasoy, Hatice / Dafsari, Hormos Salimi / Becker, Kerstin / Daimagüler, Hülya‐Sevcan / Nürnberg, Peter / Muntoni, Francesco et al. | 2021
- 355
-
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis‐2 with impaired intellectual developmentZaka, Ayesha / Shahzad, Shaheen / Rao, Hadi Zahid / Hashim, Yasmin / Basit, Sulman et al. | 2021
- 362
-
Phenotypic features in MECP2 duplication syndrome: Effects of agePeters, Sarika U. / Fu, Cary / Marsh, Eric D. / Benke, Tim A. / Suter, Bernard / Skinner, Steve A. / Lieberman, David N. / Standridge, Shannon / Jones, Mary / Beisang, Arthur et al. | 2021
- 370
-
Further delineation of MYO18B‐related autosomal recessive Klippel‐Feil syndrome with myopathy and facial dysmorphismAltuame, Fadie D. / Haldeman‐Englert, Chad / Cupler, Edward / Al Muhaizea, Mohammad A. / Al‐Zaidan, Hamad I. / Hashem, Mais / Alkuraya, Fowzan S. et al. | 2021
- 377
-
Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2aLu, Qian / Zhang, Meng‐Na / Shi, Xiu‐Yu / Zhang, Ling‐Qiang / Wang, Yang‐Yang / Liu, Li‐Ying / He, Wen / Chen, Hui‐Min / He, Bing / Zou, Li‐Ping et al. | 2021
- 384
-
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literatureSeto, Mimi Tin‐Yan / Bertoli‐Avella, Aida M. / Cheung, Ka Wang / Chan, Kelvin Yuen‐Kwong / Yeung, Kit San / Fung, Jasmine Lee‐Fong / Beetz, Christian / Bauer, Peter / Luk, Ho Ming / Lo, Ivan Fai‐Man et al. | 2021
- 390
-
Pulmonary function in Williams–Beuren syndrome: Spirometric data of 22 Italian patientsPangallo, Elisabetta / Cianci, Paola / Favuzza, Filippo / Milani, Donatella / Vimercati, Chiara / Moretti, Alex / Picchi, Raffaella / De Paoli, Anita / Agosti, Massimo / Selicorni, Angelo et al. | 2021
- 397
-
Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropoutMagri, Stefania / Nanetti, Lorenzo / Mongelli, Alessia / Rizzo, Elena / Taroni, Franco / Mariotti, Caterina / Gellera, Cinzia et al. | 2021
- 401
-
Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their useNeumeyer, Luitgard / Merker, Andrea / Hagenäs, Lars et al. | 2021
- 413
-
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental surveyAbell, Katherine / Hopkin, Robert J. / Bender, Patricia L. / Jackson, Farrah / Smallwood, Kelly / Sullivan, Bonnie / Stottmann, Rolf W. / Saal, Howard M. / Weaver, K. Nicole et al. | 2021
- 424
-
Defining dysmorphic facial features in congenital Zika syndromeFonteles, Cristiane Sá Roriz / Monteiro, Francisco César Filho / Bastos Vasconcelos, Rebeca / Jalles Monteiro, André / Maia Chaves Júnior, Cauby / Franco Marçal, Felipe / Asfor Rocha Carvalho Martins, Renata / Pereira de Oliveira, Ana Lalessa / de Sá Cavalcante, Grisielle / Palhano Toscano, Bianca et al. | 2021
- 434
-
Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variantsSouzeau, Emmanuelle / Siggs, Owen M. / Pasutto, Francesca / Knight, Lachlan S. W. / Perez‐Jurado, Luis A. / McGregor, Lesley / Le Blanc, Shannon / Barnett, Christopher P. / Liebelt, Jan / Craig, Jamie E. et al. | 2021
- 440
-
Clinical spectrum in multiple families with primary COQ10 deficiencyHashemi, Seyyed S. / Zare‐Abdollahi, Davood / Bakhshandeh, Mohammad K. / Vafaee, Amirreza / Abolhasani, Sona / Inanloo Rahatloo, Kolsoum / DanaeeFard, Fardad / Farboodi, Niloofar / Rohani, Mohammad / Alavi, Afagh et al. | 2021
- 453
-
Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of CongoMubungu, Gerrye / Makay, Prince / Lumaka, Aimé / Mvuama, Nono / Tshika, Dahlie / Tady, Bruno‐Paul / Biselele, Thérèse / Roelants, Mathieu / Tshilobo, Prosper Lukusa / Devriendt, Koenraad et al. | 2021
- 461
-
A rare cause of syndromic short stature: 3M syndrome in three familiesIsik, Esra / Arican, Duygu / Atik, Tahir / Ooi, Joo Enn / Darcan, Sukran / Ozen, Samim / Simsek Kiper, Pelin Ozlem / Utine, Eda / Cogulu, Ozgur / Ozkinay, Ferda et al. | 2021
- 469
-
Familial cardio‐facio‐cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literatureRauen, Katherine A. / Maeda, Yoshiko / Egense, Alena / Tidyman, William E. et al. | 2021
- 476
-
GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanismsMademont‐Soler, Irene / Casellas‐Vidal, Dolors / Trujillo, Alberto / Espuña‐Capote, Núria / Maroto, Anna / García‐González, Maria del Mar / Ruiz, María Dolores / Diego‐Álvarez, Dan / Queralt, Xavier / Perapoch, Josep et al. | 2021
- 486
-
Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian populationLevy, Michael A / Kerkhof, Jennifer / Belmonte, Frances R. / Kaufman, Brett A. / Bhai, Pratibha / Brady, Lauren / Bursztyn, Lulu L.C.D. / Tarnopolsky, Mark / Rupar, Tony / Sadikovic, Bekim et al. | 2021
- 500
-
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysisSummerlin, Maxwell L. / Regier, Debra S. / Fraser, Jamie L. / Chapman, Kimberly A. / Kafashzadeh, Dariush / Billington, Charles Jr. / Kisling, Monisha / Grochowsky, Angela / Ah Mew, Nicholas / Shur, Natasha et al. | 2021
- 508
-
Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III networkFinn, Kelsey Stuttgen / Lynch, John / Aufox, Sharon / Bland, Harris T. / Chung, Wendy / Halverson, Colin / Hebbring, Scott / Hoell, Christin / Holm, Ingrid / Jarvik, Gail et al. | 2021
- 517
-
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disordersBotto, Lorenzo D. / Meeths, Marie / Campos‐Xavier, Belinda / Bergamaschi, Rosalba / Mazzanti, Laura / Scarano, Emanuela / Finocchi, Andrea / Cancrini, Caterina / Zirn, Birgit / Kühnle, Ingrid et al. | 2021
- 528
-
Autosomal‐dominant WFS1‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant formsAbu‐El‐Haija, Aya / McGowan, Caroline / Vanderveen, Deborah / Bodamer, Olaf et al. | 2021
- 534
-
Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new findingSanderson, Bevan / Leach, Courtney / Zein, Mike / Islam, Omar / MacLean, Gillian / Strube, Yi Ning J. / Guerin, Andrea et al. | 2021
- 539
-
Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growthSelvam, Pavalan / Jain, Angita / Cheema, Anvir / Atwal, Herjot / Forghani, Irman / Atwal, Paldeep S et al. | 2021
- 544
-
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analysesGranadillo, Jorge L. / Wegner, Daniel J. / Paul, Alexander J. / Willing, Marcia / Sisco, Kathleen / Tedder, Matthew L. / Sadikovic, Bekim / Wambach, Jennifer A. / Baldridge, Dustin / Cole, Francis Sessions et al. | 2021
- 549
-
A boy with Silver–Russell syndrome and Sotos syndromeSchwaibold, Eva M. C. / Beygo, Jasmin / Obeid, Katharina / Jauch, Anna / Hinderhofer, Katrin / Moog, Ute et al. | 2021
- 555
-
Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathyHildebrandt, Clara / Fulton, Anne / Rodan, Lance H. et al. | 2021
- 561
-
The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family studyShoakazemi, Alireza / Hewitt, Alan / Smith, Miriam J. / du Plessis, Daniel / Thomas, Owen / Stivaros, Stavros M. / Deniz, Kenan / Hammerbeck‐ward, Charlotte / Rutherford, Scott A. / King, Andrew Thomas et al. | 2021
- 566
-
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomasSheppard, Sarah E. / Barrett, Brett / Muraresku, Colleen / McKnight, Heather / De Leon, Diva D. / Lord, Katherine / Ganetzky, Rebecca et al. | 2021
- 571
-
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplicationKoene, Saskia / Peeters‐Scholte, Cacha M. P. C. D. / Knijnenburg, Jeroen / de Vries, Linda S. / van Scheltema, Phebe N. Adama / Meuwissen, Marije E. / Steggerda, Sylke J. / Santen, Gijs W. E. et al. | 2021
- 575
-
A de novo pathogenic BMP2 variant‐related phenotype with the novel finding of bicuspid aortic valveAhluwalia, Neha / Gelb, Bruce D. et al. | 2021
- 579
-
Beta‐propeller protein–associated neurodegeneration presenting Rett‐like features: A case report and literature reviewKano, Kanako / Yamanaka, Gaku / Muramatsu, Kazuhiro / Morichi, Shinichiro / Ishida, Yu / Takamatsu, Tomoko / Suzuki, Shinji / Miyajima, Tasuku / Nakagawa, Eiji / Nishino, Ichizo et al. | 2021
- 584
-
Could the MED13 mutations manifest as a Kabuki‐like syndrome?De Nardi, Laura / Faletra, Flavio / D'Adamo, Adamo Pio / Bianco, Anna Monica Rosaria / Athanasakis, Emmanouil / Bruno, Irene / Barbi, Egidio et al. | 2021
- 591
-
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detectionMoreno‐García, Marta / Arteche‐López, Ana Rosa / Álvarez‐Mora, María Isabel / Palma Milla, Carmen / Quesada Espinosa, Juan Francisco / Lezana Rosales, José Miguel / Sánchez Calvín, María Teresa / Gómez Manjón, Irene / Gómez Rodríguez, María José / Mendez‐Guerrero, Antonio et al. | 2021
- 596
-
Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapyJoy, Praisy / Yoganathan, Sangeetha / Korula, Sophy / Abraham, Suneetha Susan C / Barney, Anitha M / Walter, Vrisha Madhuri / Gibikote, Sridhar / Danda, Sumita et al. | 2021
- 600
-
Age‐stratified prevalence of relevant comorbidities and etiologies for hospitalizations in Prader–Willi syndrome patientsPemmasani, Gayatri / Yandrapalli, Srikanth et al. | 2021
- 602
-
Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co‐existing truncating variantsKluwe, Lan / Mautner, Victor F. et al. | 2021
- 604
-
Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADAAlsaif, Hessa S. / Khashab, Heba Youssef E. L. / Alkuraya, Fowzan S. et al. | 2021
- 608
-
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)Innella, Giovanni / Greco, Donatella / Carli, Diana / Magini, Pamela / Giorgio, Elisa / Galesi, Ornella / Ferrero, Giovanni Battista / Romano, Corrado / Brusco, Alfredo / Graziano, Claudio et al. | 2021
- 614
-
Three M syndrome 2 in two Indian patientsJacob, Prince / Girisha, Katta M. et al. | 2021
- 617
-
Witteveen–Kolk syndrome: The first patient from TurkeyErcoskun, Pelin / Yuce Kahraman, Cigdem et al. | 2021
- 620
-
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from MaldivesYesodharan, Dhanya / Krishnan, Vivek / Nair, Indu R. / Ganapathy, Aparna / Mannan, Ashraf U. / Nampoothiri, Sheela et al. | 2021
- 625
-
Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast AsiaBishnoi, Priya / Ng, Yi Zhen / Wei, Heming / Tan, Ene‐Choo / Lunny, Declan P. / Wong, X. F. Colin C. / Kin Fon, Leong / Gondokaryono, Srie Prihianti / Diana, Inne Arline / Common, John E. A. et al. | 2021
- 631
-
COFS type 3 in an Indian family with antenatally detected arthrogryposisPanigrahi, Inusha / Shankar Prasad, Bangalore Anantharamu / Kaur, Harleen / Kalra, Jasvinder et al. | 2021
- 636
-
Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literatureCheng, Shirley S. W. / Chan, Pui Kwan Joyce / Luk, Ho‐Ming / Mok, Myth Tsz‐Shun / Lo, Ivan F. M. et al. | 2021
- 647
-
Continuing contributions of older academicsHall, Judith G. et al. | 2021
- 658
-
The point‐of‐care use of a facial phenotyping tool in the genetics clinic: An ethics tête‐a‐têteMcCradden, Melissa D. / Patel, Evani / Chad, Lauren et al. | 2021
- i
-
Cover Image, Volume 185A, Number 2, February 2021| 2021