Victoria Huckstadt

Affiliations

Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.

ORCID: 0000-0001-6411-1955

Publications (9)

Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.

American journal of medical genetics. Part A

Avec: Josefina Chinton , Abel Gomez , María Gabriela Obregon , Luis Pablo Gravina

Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.

American journal of medical genetics. Part A

Avec: Josefina Chinton , Maria Eugenia Foncuberta , Maria Mercedes Perez , Mara Cecilia Bonetto , Luis Pablo Gravina , María Gabriela Obregon

Providing more evidence on LZTR1 variants in Noonan syndrome patients.

American journal of medical genetics. Part A

Avec: Josefina Chinton , Mafalda Mucciolo , Francesca Lepri , Antonio Novelli , Luis Pablo Gravina , María Gabriela Obregon

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.

Archivos argentinos de pediatria

Avec: Josefina Chinton , Angélica Moresco , L Pablo Gravina , M Gabriela Obregon

Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.

Genes

Avec: Boris Rebolledo-Jaramillo , Maria Gabriela Obregon , Abel Gomez , Gabriela M Repetto

Turner syndrome in diverse populations.

American journal of medical genetics. Part A

Avec: Paul Kruszka , Yonit A Addissie , Cedrik Tekendo-Ngongang , Kelly L Jones , Sarah K Savage , Neerja Gupta , Nirmala D Sirisena , Vajira H W Dissanayake , C Sampath Paththinige , Teresa Aravena , Sheela Nampoothiri , Dhanya Yesodharan , Katta M Girisha , Siddaramappa Jagdish Patil , Saumya Shekhar Jamuar , Jasmine Chew-Yin Goh , Agustini Utari , Nydia Sihombing , Rupesh Mishra , Neer Shoba Chitrakar , Brenda C Iriele , Ezana Lulseged , Andre Megarbane , Annette Uwineza , Elizabeth Eberechi Oyenusi , Oluwarotimi Bolaji Olopade , Olufemi Adetola Fasanmade , Milagros M Duenas-Roque , Meow-Keong Thong , Joanna Y L Tung , Gary T K Mok , Nicole Fleischer , Godfrey M Rwegerera , María Beatriz de Herreros , Johnathan Watts , Karen Fieggen , Angélica Moresco , María Gabriela Obregon , Dalia Farouk Hussen , Neveen A Ashaat , Engy A Ashaat , Brian H Y Chung , Eben Badoe , Sultana M H Faradz , Mona O El Ruby , Vorasuk Shotelersuk , Ambroise Wonkam , Ekanem Nsikak Ekure , Shubha R Phadke , Antonio Richieri-Costa , Maximilian Muenke

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

American journal of medical genetics. Part A

Avec: Aude-Annick Suter , Fernando Santos-Simarro , Pernille Mathiesen Toerring , Angela Abad Perez , Rosario Ramos-Mejia , Karen E Heath , Manuel Parrón-Pajares , Martin Atta Mensah , Wiebke Hülsemann , Manuel Holtgrewe , Stefan Mundlos , Uwe Kornak , Oliver Bartsch , Nadja Ehmke

Rubinstein-Taybi syndrome in diverse populations.

American journal of medical genetics. Part A

Avec: Cedrik Tekendo-Ngongang , Babajide Owosela , Nicole Fleischer , Yonit A Addissie , Bryan Malonga , Ebenezer Badoe , Neerja Gupta , Angélica Moresco , Engy A Ashaat , Dalia Farouk Hussen , Ho-Ming Luk , Ivan F M Lo , Brian Hon-Yin Chung , Jasmine L F Fung , Danilo Moretti-Ferreira , Letícia Cassimiro Batista , Stephanie Lotz-Esquivel , Manuel Saborio-Rocafort , Ramses Badilla-Porras , Monica Penon Portmann , Kelly L Jones , Omar A Abdul-Rahman , Annette Uwineza , Eloise J Prijoles , Ifeanyi Kanayo Ifeorah , Arianne Llamos Paneque , Nirmala D Sirisena , Leah Dowsett , Sansan Lee , Gerarda Cappuccio , Carolyn Sian Kitchin , Alicia Diaz-Kuan , Meow-Keong Thong , María Gabriela Obregon , Leon Mutesa , Vajira H W Dissanayake , Mona O El Ruby , Nicola Brunetti-Pierri , Ekanem Nsikak Ekure , Roger E Stevenson , Maximilian Muenke , Paul Kruszka

Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.

American journal of medical genetics. Part A

Avec: Rosario Ramos-Mejía , Karen E Heath , Silvia Modamio-Høybjør , Julián Calcagni , Rodrigo Remondino , Virginia Fano

Réseau de co-auteurs

María Gabriela Obregon 5 collaborations

Josefina Chinton 4 collaborations

Luis Pablo Gravina 3 collaborations

Angélica Moresco 3 collaborations

Abel Gomez 2 collaborations

Paul Kruszka 2 collaborations

Yonit A Addissie 2 collaborations

Cedrik Tekendo-Ngongang 2 collaborations

Kelly L Jones 2 collaborations

Neerja Gupta 2 collaborations

Nirmala D Sirisena 2 collaborations

Vajira H W Dissanayake 2 collaborations

Annette Uwineza 2 collaborations

Meow-Keong Thong 2 collaborations

Nicole Fleischer 2 collaborations

Dalia Farouk Hussen 2 collaborations

Engy A Ashaat 2 collaborations

Mona O El Ruby 2 collaborations

Ekanem Nsikak Ekure 2 collaborations

Maximilian Muenke 2 collaborations

Karen E Heath 2 collaborations

Maria Eugenia Foncuberta 1 collaboration

Maria Mercedes Perez 1 collaboration

Mara Cecilia Bonetto 1 collaboration

Mafalda Mucciolo 1 collaboration

Francesca Lepri 1 collaboration

Antonio Novelli 1 collaboration

L Pablo Gravina 1 collaboration

M Gabriela Obregon 1 collaboration

Boris Rebolledo-Jaramillo 1 collaboration

Maria Gabriela Obregon 1 collaboration

Gabriela M Repetto 1 collaboration

Sarah K Savage 1 collaboration

C Sampath Paththinige 1 collaboration

Teresa Aravena 1 collaboration

Sheela Nampoothiri 1 collaboration

Dhanya Yesodharan 1 collaboration

Katta M Girisha 1 collaboration

Siddaramappa Jagdish Patil 1 collaboration

Saumya Shekhar Jamuar 1 collaboration

Jasmine Chew-Yin Goh 1 collaboration

Agustini Utari 1 collaboration

Nydia Sihombing 1 collaboration

Rupesh Mishra 1 collaboration

Neer Shoba Chitrakar 1 collaboration

Brenda C Iriele 1 collaboration

Ezana Lulseged 1 collaboration

Andre Megarbane 1 collaboration

Elizabeth Eberechi Oyenusi 1 collaboration

Oluwarotimi Bolaji Olopade 1 collaboration

Olufemi Adetola Fasanmade 1 collaboration

Milagros M Duenas-Roque 1 collaboration

Joanna Y L Tung 1 collaboration

Gary T K Mok 1 collaboration

Godfrey M Rwegerera 1 collaboration

María Beatriz de Herreros 1 collaboration

Johnathan Watts 1 collaboration

Karen Fieggen 1 collaboration

Neveen A Ashaat 1 collaboration

Brian H Y Chung 1 collaboration

Eben Badoe 1 collaboration

Sultana M H Faradz 1 collaboration

Vorasuk Shotelersuk 1 collaboration

Ambroise Wonkam 1 collaboration

Shubha R Phadke 1 collaboration

Antonio Richieri-Costa 1 collaboration

Aude-Annick Suter 1 collaboration

Fernando Santos-Simarro 1 collaboration

Pernille Mathiesen Toerring 1 collaboration

Angela Abad Perez 1 collaboration

Rosario Ramos-Mejia 1 collaboration

Manuel Parrón-Pajares 1 collaboration

Martin Atta Mensah 1 collaboration

Wiebke Hülsemann 1 collaboration

Manuel Holtgrewe 1 collaboration

Stefan Mundlos 1 collaboration

Uwe Kornak 1 collaboration

Oliver Bartsch 1 collaboration

Nadja Ehmke 1 collaboration

Babajide Owosela 1 collaboration

Bryan Malonga 1 collaboration

Ebenezer Badoe 1 collaboration

Ho-Ming Luk 1 collaboration

Ivan F M Lo 1 collaboration

Brian Hon-Yin Chung 1 collaboration

Jasmine L F Fung 1 collaboration

Danilo Moretti-Ferreira 1 collaboration

Letícia Cassimiro Batista 1 collaboration

Stephanie Lotz-Esquivel 1 collaboration

Manuel Saborio-Rocafort 1 collaboration

Ramses Badilla-Porras 1 collaboration

Monica Penon Portmann 1 collaboration

Omar A Abdul-Rahman 1 collaboration

Eloise J Prijoles 1 collaboration

Ifeanyi Kanayo Ifeorah 1 collaboration

Arianne Llamos Paneque 1 collaboration

Leah Dowsett 1 collaboration

Sansan Lee 1 collaboration

Gerarda Cappuccio 1 collaboration

Carolyn Sian Kitchin 1 collaboration

Alicia Diaz-Kuan 1 collaboration

Leon Mutesa 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Roger E Stevenson 1 collaboration

Rosario Ramos-Mejía 1 collaboration

Silvia Modamio-Høybjør 1 collaboration

Julián Calcagni 1 collaboration

Rodrigo Remondino 1 collaboration

Virginia Fano 1 collaboration