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Genetic regulatory pathways of split‐hand/foot malformation

Clinical genetics, 2019-01, Vol.95 (1), p.132-139

2019

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Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome

Genes, 2022-10, Vol.13 (10), p.1850

2022

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ADAMTSL1 and mandibular prognathism

Clinical genetics, 2019-04, Vol.95 (4), p.507-515

2019

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A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al‐Awadi/Raas‐Rothschild/Schinzel phocomelia syndrome

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2832-2837

2010

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Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.486-493

2019

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Split hand‐split foot‐ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.188-192

2012

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A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

American journal of medical genetics, 2005-01, Vol.132A (1), p.63-67

2005

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ΔNp63 knockdown mice: A mouse model for AEC syndrome

American journal of medical genetics. Part A, 2009-09, Vol.149A (9), p.1942-1947

2009

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Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

European journal of human genetics : EJHG, 2010-12, Vol.18 (12), p.1310-1314

2010

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Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate

American journal of medical genetics. Part A, 2011-06, Vol.155 (6), p.1432-1436

2011

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Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion

American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2598-2602

2006

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Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup)

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.833-834

2009

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A newly recognized polyosteolysis/hyperostosis syndrome

American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2640-2645

2006

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Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome

American journal of medical genetics. Part A, 2004-10, Vol.130A (2), p.181-190

2004

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A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet

Journal of human genetics, 2002-03, Vol.47 (3), p.136-139

2002

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A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5

American journal of medical genetics. Part A, 2003-07, Vol.120A (3), p.381-385

2003

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A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teeth

Oral surgery, oral medicine, oral pathology, oral radiology and endodontics, 2001-09, Vol.92 (3), p.303-307

Kantaputra, Piranit N.

2001

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Mutati in SAM Domain of TP63 is Associated With Nonsyndromic Cleft Lip and Palate and Cleft Palate

American journal of medical genetics. Part A, 2011, Vol.155 (6), p.1432-1436

2011

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Corrigendum to Obesity Syndrome, MOMES Caused by Deletion-Duplication (4q35.1 del and 5p14.3 Duplication) AJMG Part A, 2009; 149(4): 833-834

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1874-1874

2010

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Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: New syndrome or Fraser syndrome?

American journal of medical genetics, 2001-01, Vol.98 (3), p.263-268

2001

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Obesity syndrome, MOMES caused by deletion–duplication (4q35.1 del and 5p14.3 dup)

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.833-834

2009

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DNp63 knockdown mice: A mouse model for AEC syndrome

American journal of medical genetics. Part A, 2009-01, Vol.149A (9), p.1942-1947

2009

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Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings

American journal of medical genetics, 2002-09, Vol.111 (4), p.420-428

Kantaputra, Piranit N.

2002

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Laurin-Sandrow syndrome with additional associated manifestations

American journal of medical genetics, 2001-01, Vol.98 (3), p.210-215

Kantaputra, Piranit N.

2001

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Genetic regulatory pathways of split‐hand/foot malformation

Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome

ADAMTSL1 and mandibular prognathism

A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al‐Awadi/Raas‐Rothschild/Schinzel phocomelia syndrome

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

Split hand‐split foot‐ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

ΔNp63 knockdown mice: A mouse model for AEC syndrome

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate

Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion

Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup)

A newly recognized polyosteolysis/hyperostosis syndrome

Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet

A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5

A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teeth

Mutati in SAM Domain of TP63 is Associated With Nonsyndromic Cleft Lip and Palate and Cleft Palate

Corrigendum to Obesity Syndrome, MOMES Caused by Deletion-Duplication (4q35.1 del and 5p14.3 Duplication) AJMG Part A, 2009; 149(4): 833-834

Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: New syndrome or Fraser syndrome?

Obesity syndrome, MOMES caused by deletion–duplication (4q35.1 del and 5p14.3 dup)

DNp63 knockdown mice: A mouse model for AEC syndrome

Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings

Laurin-Sandrow syndrome with additional associated manifestations

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