Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta

SHORT REPORT Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

E Firatli
J Med Genet

September 2016

The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unkn...

LAMB3 Mutations Causing Autosomal-dominant Amelogenesis Imperfecta

SIMMER, J. P.
Seymen, Figen
Gencay, K.
HU, J. C. -C.
Tuna, E. B.
KIM, J. W.
LEE, K. E.
KO, J.
Yıldırım, Mustafa Semih
SHIN, T. J.
KYUN, H. K.

January 2013

Amelogenesis imperfecta (AI) can be either isolated or part of a larger syndrome. Junctional epiderm...

Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta

KIM, Jung-Wook
Koruyucu, Mine
SIMMER, James P.
Gencay, Koray
Seymen, Figen
KIM, Youn Jung
KANG, Jenny
SHIN, Teo Jeon
HYUN, Hong-Keun
LEE, Zang Hee
HU, Jan C. -C.

March 2021

Amelogenesis imperfecta is a group of rare inherited disorders that affect tooth enamel formation, q...

Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta

Kım, Y-J
Hyun, H-K
Shın, T. J.
Lee, Z. H.
Kım, J-W
Kasimoglu, Y.
Koruyucu, M.
Gencay, K.
Seymen, Figen

January 2016

ObjectiveTo identify the molecular genetic aetiology of a family with autosomal dominant amelogenesi...

“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

Anne-Laure Bonnet
Kevin Sceosole
Arabelle Vanderzwalm
Caroline Silve
Anne-Margaux Collignon
Celine Gaucher

January 2020

Amelogenesis imperfecta (AI) represents rare tooth anomalies that affect the quality and/or quantity...

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome

Whitehouse, LLE
Smith, CEL
Poulter, JA
Brown, CJ
Patel, A
Lamb, T
Brown, LR
O'Sullivan, EA
Mitchell, RE
Berry, IR
Charlton, R
Inglehearn, CF
Mighell, AJ

January 2019

Objectives: Variants in DLX3 cause tricho‐dento‐osseous syndrome (TDO, MIM #190320), a systemic cond...

Detection of a novel mutation in X-linked amelogenesis imperfecta

Kindelan, S. A.
Brook, A. H.
Gangemi, L.
Lench, N.
Wong, F.
Fearne, J.
Foster, George A.
Stringer, Bradley

December 2000

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders of defective enamel for...

Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.

Lee, Sang-Hoon
Tuna, Elif Bahar
Kim, Jung-Wook
Simmer, James
Hu, Jan
Kim, Youn Jung
Seymen, Figen
Kang, Jenny
Koruyucu, Mine
Tüloğlu, Nuray
Bayrak, Şule
Lee, Zang Hee
Shin, Teo Jeon
Hyun, Hong-Keun
Kim, Young-Jae

March 2021

ObjectiveAmelogenesis imperfecta (AI) is a rare hereditary disorder affecting the quality and quanti...

Amelogenesis imperfecta: Genotype-phenotype studies in 71 families

Wright, J. Timothy
Torain, Melody
Long, Kimberly
Seow, Kim
Crawford, Peter
Aldred, Michael J.
Hart, P. Suzanne
Hart, Tom C.

August 2011

Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of ...

Novel <i>WDR72</i> Mutations Causing Hypomaturation Amelogenesis Imperfecta

Youn Jung Kim
Hong Zhang
Yejin Lee
Figen Seymen
Mine Koruyucu
Yelda Kasimoglu
James P. Simmer
Jan C.-C. Hu
Jung-Wook Kim

February 2023

Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affecte...

Amelogenesis Imperfecta with Class III

M L Asha
G Arun Kumar
A S Anupama
Jigna V Raja

November 2015

modes of transmission. There are also patients for whom family history cannot be identified, but whe...

Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

Xin Wang
Yuming Zhao
Yuan Yang
Man Qin

Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of denta...

Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta

KORUYUCU, Mine
Hu, Jan C. -C.
Kasimoglu, Yelda
Simmer, James P.
Kim, Jung-Wook
Seymen, Figen
Zhang, Hong

January 2022

Amelogenesis imperfecta (AI) is a rare genetic condition affecting the quantity and/or quality of to...

Genes involved in amelogenesis imperfecta. Part II

Víctor Hugo Simancas-Escorcia
Alfredo Enrique Natera-Guarapo
María Gabriela Acosta-de Camargo

October 2019

Amelogenesis imperfecta (AI) is a condition of genetic origin that alters the structure of tooth ena...

Identification de nouveaux gènes impliqués dans les anomalies crânio-faciales et bucco-dentaires

Huckert, Mathilde

September 2015

Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of ...

SHORT REPORT Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

E Firatli
J Med Genet

September 2016

The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unkn...

LAMB3 Mutations Causing Autosomal-dominant Amelogenesis Imperfecta

SIMMER, J. P.
Seymen, Figen
Gencay, K.
HU, J. C. -C.
Tuna, E. B.
KIM, J. W.
LEE, K. E.
KO, J.
Yıldırım, Mustafa Semih
SHIN, T. J.
KYUN, H. K.

January 2013

Amelogenesis imperfecta (AI) can be either isolated or part of a larger syndrome. Junctional epiderm...

Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta

KIM, Jung-Wook
Koruyucu, Mine
SIMMER, James P.
Gencay, Koray
Seymen, Figen
KIM, Youn Jung
KANG, Jenny
SHIN, Teo Jeon
HYUN, Hong-Keun
LEE, Zang Hee
HU, Jan C. -C.

March 2021

Amelogenesis imperfecta is a group of rare inherited disorders that affect tooth enamel formation, q...

Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta

Kım, Y-J
Hyun, H-K
Shın, T. J.
Lee, Z. H.
Kım, J-W
Kasimoglu, Y.
Koruyucu, M.
Gencay, K.
Seymen, Figen

January 2016

ObjectiveTo identify the molecular genetic aetiology of a family with autosomal dominant amelogenesi...

“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

Anne-Laure Bonnet
Kevin Sceosole
Arabelle Vanderzwalm
Caroline Silve
Anne-Margaux Collignon
Celine Gaucher

January 2020

Amelogenesis imperfecta (AI) represents rare tooth anomalies that affect the quality and/or quantity...

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome

Whitehouse, LLE
Smith, CEL
Poulter, JA
Brown, CJ
Patel, A
Lamb, T
Brown, LR
O'Sullivan, EA
Mitchell, RE
Berry, IR
Charlton, R
Inglehearn, CF
Mighell, AJ

January 2019

Objectives: Variants in DLX3 cause tricho‐dento‐osseous syndrome (TDO, MIM #190320), a systemic cond...

Detection of a novel mutation in X-linked amelogenesis imperfecta

Kindelan, S. A.
Brook, A. H.
Gangemi, L.
Lench, N.
Wong, F.
Fearne, J.
Foster, George A.
Stringer, Bradley

December 2000

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders of defective enamel for...

Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.

Lee, Sang-Hoon
Tuna, Elif Bahar
Kim, Jung-Wook
Simmer, James
Hu, Jan
Kim, Youn Jung
Seymen, Figen
Kang, Jenny
Koruyucu, Mine
Tüloğlu, Nuray
Bayrak, Şule
Lee, Zang Hee
Shin, Teo Jeon
Hyun, Hong-Keun
Kim, Young-Jae

March 2021

ObjectiveAmelogenesis imperfecta (AI) is a rare hereditary disorder affecting the quality and quanti...

Amelogenesis imperfecta: Genotype-phenotype studies in 71 families

Wright, J. Timothy
Torain, Melody
Long, Kimberly
Seow, Kim
Crawford, Peter
Aldred, Michael J.
Hart, P. Suzanne
Hart, Tom C.

August 2011

Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of ...

Novel <i>WDR72</i> Mutations Causing Hypomaturation Amelogenesis Imperfecta

Youn Jung Kim
Hong Zhang
Yejin Lee
Figen Seymen
Mine Koruyucu
Yelda Kasimoglu
James P. Simmer
Jan C.-C. Hu
Jung-Wook Kim

February 2023

Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affecte...

Amelogenesis Imperfecta with Class III

M L Asha
G Arun Kumar
A S Anupama
Jigna V Raja

November 2015

modes of transmission. There are also patients for whom family history cannot be identified, but whe...

Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

Xin Wang
Yuming Zhao
Yuan Yang
Man Qin

Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of denta...

Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta

KORUYUCU, Mine
Hu, Jan C. -C.
Kasimoglu, Yelda
Simmer, James P.
Kim, Jung-Wook
Seymen, Figen
Zhang, Hong

January 2022

Amelogenesis imperfecta (AI) is a rare genetic condition affecting the quantity and/or quality of to...

Genes involved in amelogenesis imperfecta. Part II

Víctor Hugo Simancas-Escorcia
Alfredo Enrique Natera-Guarapo
María Gabriela Acosta-de Camargo

October 2019

Amelogenesis imperfecta (AI) is a condition of genetic origin that alters the structure of tooth ena...

Identification de nouveaux gènes impliqués dans les anomalies crânio-faciales et bucco-dentaires

Huckert, Mathilde

September 2015

Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of ...

SHORT REPORT Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

E Firatli
J Med Genet

September 2016

The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unkn...

LAMB3 Mutations Causing Autosomal-dominant Amelogenesis Imperfecta

SIMMER, J. P.
Seymen, Figen
Gencay, K.
HU, J. C. -C.
Tuna, E. B.
KIM, J. W.
LEE, K. E.
KO, J.
Yıldırım, Mustafa Semih
SHIN, T. J.
KYUN, H. K.

January 2013

Amelogenesis imperfecta (AI) can be either isolated or part of a larger syndrome. Junctional epiderm...

Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta

KIM, Jung-Wook
Koruyucu, Mine
SIMMER, James P.
Gencay, Koray
Seymen, Figen
KIM, Youn Jung
KANG, Jenny
SHIN, Teo Jeon
HYUN, Hong-Keun
LEE, Zang Hee
HU, Jan C. -C.

March 2021

Amelogenesis imperfecta is a group of rare inherited disorders that affect tooth enamel formation, q...

Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta

Abstract

Extracted data

Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta

Abstract

Extracted data

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