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A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation
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A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

Yariz, K.O. ; Sakalar, Y.B. ; Jin, X. ; Hertz, J. ; Sener, E.F. ; Akay, H. ; Özbek, M.N. ; Farooq, A. ; Goldberg, J. ; Tekin, M.

Clinical genetics, 2015-02, Vol.87 (2), p.192-195 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia
Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia
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Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia

Lexner, MO ; Bardow, A ; Bjorn-Jorgensen, J ; Hertz, JM ; Almer, L ; Kreiborg, S

Orthodontics & craniofacial research, 2007-11, Vol.10 (4), p.203-215 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)
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Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

Hertz, J M ; Sivertsen, B ; Silahtaroglu, A ; Bugge, M ; Kalscheuer, V ; Weber, A ; Wirth, J ; Ropers, H-H ; Tommerup, N ; Tümer, Z

Journal of medical genetics, 2004-03, Vol.41 (3), p.e25-25 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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4
Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis
Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis
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Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis

Mertz, Line Granild Bie ; Christensen, Rikke ; Vogel, Ida ; Hertz, Jens Michael ; Nielsen, Karen Brøndum ; Grønskov, Karen ; Østergaard, John R.

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2197-2203 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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5
Ichthyosis with Confetti Inherited from a Mosaic Father
Ichthyosis with Confetti Inherited from a Mosaic Father
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Ichthyosis with Confetti Inherited from a Mosaic Father

Pallesen, Kristine A U ; Clemmensen, Ole ; Fischer, Judith ; Hertz, Jens Michael ; Bygum, Anette

Acta dermato-venereologica, 2018-01, Vol.98 (1), p.130-131 [Periódico revisado por pares]

Sweden: Medical Journals Sweden

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6
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia
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A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia

Svendsen, Mathias ; Henningsen, Emil ; Hertz, Jens Michael ; Vestergaard Grejsen, Dorthe ; Bygum, Anette

Acta dermato-venereologica, 2014-01, Vol.94 (5), p.531-533 [Periódico revisado por pares]

Sweden

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7
Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration
Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration
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Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

Storm, Tina ; Tranebjærg, Lisbeth ; Frykholm, Carina ; Birn, Henrik ; Verroust, Pierre J ; Nevéus, Tryggve ; Sundelin, Birgitta ; Hertz, Jens Michael ; Holmström, Gerd ; Ericson, Katharina ; Christensen, Erik I ; Nielsen, Rikke

Nephrology, dialysis, transplantation, 2013-03, Vol.28 (3), p.585-591 [Periódico revisado por pares]

England

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8
A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
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A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia

Hertz, Jens Michael ; Hansen, Karen Nørgaard ; Juncker, Inger ; Kjeldsen, Margrethe ; Gregersen, Niels

Clinical genetics, 1998-03, Vol.53 (3), p.205-209 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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9
A novel splicing mutation in the V2 vasopressin receptor
A novel splicing mutation in the V2 vasopressin receptor
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A novel splicing mutation in the V2 vasopressin receptor

Kamperis, K ; Siggaard, C ; Herlin, T ; Nathan, E ; Hertz, J M ; Rittig, S

Pediatric nephrology (Berlin, West), 2000-11, Vol.15 (1-2), p.43-49 [Periódico revisado por pares]

Germany: Springer Nature B.V

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10
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
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Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

Karadima, G ; Bugge, M ; Nicolaidis, P ; Vassilopoulos, D ; Avramopoulos, D ; Grigoriadou, M ; Albrecht, B ; Passarge, E ; Annerén, G ; Blennow, E ; Clausen, N ; Galla-Voumvouraki, A ; Tsezou, A ; Kitsiou-Tzeli, S ; Hahnemann, J M ; Hertz, J M ; Houge, G ; Kuklík, M ; Macek, M ; Lacombe, D ; Miller, K ; Moncla, A ; López Pajares, I ; Patsalis, P C ; Petersen, M B

European journal of human genetics : EJHG, 1998-09, Vol.6 (5), p.432-438 [Periódico revisado por pares]

England

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