Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome

Chiara Migliore
Anna Vendramin
Shane McKee
Paolo Prontera
Francesca Faravelli
Rani Sachdev
Patricia Dias
Martina Mascaro
Danilo Licastro
Germana Meroni

January 2022

Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defe...

Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

Dangiolo, Silvana Beatriz
Wilson, Ashley L.
Jobanputra, Vaidehi
Anyane-Yeboa, Kwame

January 2015

Bohring–Opitz syndrome (BOS) was first described by Bohring et al. [1999]. The authors reported four...

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum

De Falco, Francesca
Cainarca, Silvia
Andolfi, Grazia
Ferrentino, Rosa
Berti, Caterina
Criado, German Rodríguez
Rittinger, Olaf
Dennis, Nick
Odent, Sylvie
Rastogi, Amit
Liebelt, Jan
Chitayat, David
Winter, Robin
Jawanda, Harinder
Ballabio, Andrea
Franco, Brunella
Meroni, Germana

July 2003

Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospad...

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Bruel, Ange-Line
Bigoni, Stefania
Kennedy, Joanna
Whiteford, Margo
Buxton, Chris
Parmeggiani, Giulia
Wherlock, Matt
Woodward, Geoff
Greenslade, Mark
Williams, Maggie
St-Onge, Judith
Ferlini, Alessandra
Garani, Giampaolo
Ballardini, Elisa
van Bon, Bregje W
Acuna-Hidalgo, Rocio
Bohring, Axel
Deleuze, Jean-François
Boland, Anne
Meyer, Vincent
Olaso, Robert
Ginglinger, Emmanuelle
Study, Ddd
Rivière, Jean-Baptiste
Brunner, Han G
Hoischen, Alexander
Newbury-Ecob, Ruth
Faivre, Laurence
Thauvin-Robinet, Christel
Thevenon, Julien

December 2017

IF 5.451International audienceBohring-Opitz syndrome (BOS) is a rare genetic disorder characterised...

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

MAGINI, PAMELA
SERI, MARCO
Monica MD
Uzielli ML
Mongelli P
Scarselli G
Gambineri E
Scarano G

January 2012

Bohring-Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malform...

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes

Orteschi, Daniela
Marangi, Giuseppe (ORCID:0000-0002-6898-8882)
Neri, Giovanni

January 2016

Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring-Opitz syndrome (BOS or C-like syndrom...

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Hoischen, A.
Bon, B.W. van
Rodriguez-Santiago, B.
Gilissen, C.F.H.A.
Vissers, L.E.L.M.
Vries, P.F. de
Janssen, I.M.
Lier, B. van
Hastings, R.
Smithson, S.F.
Newbury-Ecob, R.
Kjaergaard, S.
Goodship, J.
McGowan, R.
Bartholdi, D.
Rauch, A.
Peippo, M.
Cobben, J.M.
Wieczorek, D.
Gillessen-Kaesbach, G.
Veltman, J.A.
Brunner, H.G.
Vries, L.B.A. de

January 2011

Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial featur...

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Bainbridge, M.
Hu, H.
Muzny, D.
Musante, L.
Lupski, J.
Graham, B.
Chen, W.
Gripp, K.
Jenny, K.
Wienker, T.
Yang, Y.
Sutton, V.
Gibbs, R.
Ropers, H.

February 2013

BACKGROUND: Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes tha...

Bohring Opitz Syndrome: A case of a rare genetic disorder

Shinde, Rupesh
Phadke, Varsha
Kanhere, Sujata
Sawkar, Dipeeka
Shukla, Rahul

June 2018

Bohring-Opitz syndrome (BOS) is a rare genetic disorder, characterized by feeding difficulties, deve...

Bohring-opitz syndrome - a case of a rare genetic disorder

Husna Zayadi

The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians f...

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome

Chiara Migliore
Anna Vendramin
Shane McKee
Paolo Prontera
Francesca Faravelli
Rani Sachdev
Patricia Dias
Martina Mascaro
Danilo Licastro
Germana Meroni

January 2022

Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defe...

Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

Dangiolo, Silvana Beatriz
Wilson, Ashley L.
Jobanputra, Vaidehi
Anyane-Yeboa, Kwame

January 2015

Bohring–Opitz syndrome (BOS) was first described by Bohring et al. [1999]. The authors reported four...

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum

De Falco, Francesca
Cainarca, Silvia
Andolfi, Grazia
Ferrentino, Rosa
Berti, Caterina
Criado, German Rodríguez
Rittinger, Olaf
Dennis, Nick
Odent, Sylvie
Rastogi, Amit
Liebelt, Jan
Chitayat, David
Winter, Robin
Jawanda, Harinder
Ballabio, Andrea
Franco, Brunella
Meroni, Germana

July 2003

Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospad...

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Bruel, Ange-Line
Bigoni, Stefania
Kennedy, Joanna
Whiteford, Margo
Buxton, Chris
Parmeggiani, Giulia
Wherlock, Matt
Woodward, Geoff
Greenslade, Mark
Williams, Maggie
St-Onge, Judith
Ferlini, Alessandra
Garani, Giampaolo
Ballardini, Elisa
van Bon, Bregje W
Acuna-Hidalgo, Rocio
Bohring, Axel
Deleuze, Jean-François
Boland, Anne
Meyer, Vincent
Olaso, Robert
Ginglinger, Emmanuelle
Study, Ddd
Rivière, Jean-Baptiste
Brunner, Han G
Hoischen, Alexander
Newbury-Ecob, Ruth
Faivre, Laurence
Thauvin-Robinet, Christel
Thevenon, Julien

December 2017

IF 5.451International audienceBohring-Opitz syndrome (BOS) is a rare genetic disorder characterised...

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

MAGINI, PAMELA
SERI, MARCO
Monica MD
Uzielli ML
Mongelli P
Scarselli G
Gambineri E
Scarano G

January 2012

Bohring-Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malform...

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes

Orteschi, Daniela
Marangi, Giuseppe (ORCID:0000-0002-6898-8882)
Neri, Giovanni

January 2016

Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring-Opitz syndrome (BOS or C-like syndrom...

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Hoischen, A.
Bon, B.W. van
Rodriguez-Santiago, B.
Gilissen, C.F.H.A.
Vissers, L.E.L.M.
Vries, P.F. de
Janssen, I.M.
Lier, B. van
Hastings, R.
Smithson, S.F.
Newbury-Ecob, R.
Kjaergaard, S.
Goodship, J.
McGowan, R.
Bartholdi, D.
Rauch, A.
Peippo, M.
Cobben, J.M.
Wieczorek, D.
Gillessen-Kaesbach, G.
Veltman, J.A.
Brunner, H.G.
Vries, L.B.A. de

January 2011

Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial featur...

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Bainbridge, M.
Hu, H.
Muzny, D.
Musante, L.
Lupski, J.
Graham, B.
Chen, W.
Gripp, K.
Jenny, K.
Wienker, T.
Yang, Y.
Sutton, V.
Gibbs, R.
Ropers, H.

February 2013

BACKGROUND: Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes tha...

Bohring Opitz Syndrome: A case of a rare genetic disorder

Shinde, Rupesh
Phadke, Varsha
Kanhere, Sujata
Sawkar, Dipeeka
Shukla, Rahul

June 2018

Bohring-Opitz syndrome (BOS) is a rare genetic disorder, characterized by feeding difficulties, deve...

Bohring-opitz syndrome - a case of a rare genetic disorder

Husna Zayadi

The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians f...

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome

Chiara Migliore
Anna Vendramin
Shane McKee
Paolo Prontera
Francesca Faravelli
Rani Sachdev
Patricia Dias
Martina Mascaro
Danilo Licastro
Germana Meroni

January 2022

Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defe...

Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

Dangiolo, Silvana Beatriz
Wilson, Ashley L.
Jobanputra, Vaidehi
Anyane-Yeboa, Kwame

January 2015

Bohring–Opitz syndrome (BOS) was first described by Bohring et al. [1999]. The authors reported four...

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum

De Falco, Francesca
Cainarca, Silvia
Andolfi, Grazia
Ferrentino, Rosa
Berti, Caterina
Criado, German Rodríguez
Rittinger, Olaf
Dennis, Nick
Odent, Sylvie
Rastogi, Amit
Liebelt, Jan
Chitayat, David
Winter, Robin
Jawanda, Harinder
Ballabio, Andrea
Franco, Brunella
Meroni, Germana

July 2003

Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospad...

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Abstract

Extracted data

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Abstract

Extracted data

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