P. Meinecke

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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

R. Hennekam, J. Tolmie, G. Mortier, 2007, American Journal of Human Genetics.

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

H. Ropers, D. Wieczorek, V. Kalscheuer, 2003, European Journal of Human Genetics.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Sebastian Bauer, Sebastian Köhler, Christian Rödelsperger, 2010, Nature Genetics.

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

D. Horn, S. Mundlos, J. Allanson, 2007, Journal of Medical Genetics.

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

H. Ropers, D. Wieczorek, S. Tinschert, 2003, European Journal of Human Genetics.

An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation

S. Mundlos, P. Meinecke, K. Lehmann, 2005, European Journal of Pediatrics.

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

K. Kutsche, M. Alawi, P. Meinecke, 2022, American journal of medical genetics. Part A.

heterogeneity in Cohen syndrome and clinical COH1 Mutational spectrum of

H. Hennies, D. Chitayat, M. Holder-Espinasse, 2006 .

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1

L. Bolund, N. Tommerup, P. Guldberg, 1993, Nature Genetics.

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

L. Shaffer, W. Hul, C. Powell, 1996, American journal of human genetics.

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

D. Wieczorek, C. Spaich, E. Seemanová, 2009, European Journal of Human Genetics.

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

E. Seemanová, G. Rödel, P. Meinecke, 2002, Journal of medical genetics.

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

S. Mundlos, S. Tinschert, G. Gillessen‐kaesbach, 2000, American journal of human genetics.

Holoprosencephaly as a possible embryonic alcohol effect: another observation.

C. Bönnemann, P. Meinecke, 1990, American journal of medical genetics.

Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.

C. Williams, J. Graham, J. Carey, 1993, American journal of medical genetics.

Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis.

P. Meinecke, J. Reynolds, John M. Opitz, 1987, American journal of medical genetics.

Diagnostik und Therapie beim Williams-Beuren-Syndrom (WBS)

A. Wessel, J. Weissenborn, K. Sarimski, 2005, Monatsschrift Kinderheilkunde.

Diagnosis and treatment in Williams-Beuren syndrome (WOS) : Guidelines of the Scientific Advisory Board of the German Williams-Beuren Syndrome Association

A. Wessel, J. Weissenborn, K. Sarimski, 2005 .

A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation

G. Gillessen‐kaesbach, A. Caliebe, M. Volleth, 2010, Clinical dysmorphology.

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Hae-Ryong Song, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.

J. Hurst, M. Baraitser, P. Meinecke, 1991, Journal of medical genetics.

Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity.

C. Bönnemann, P. Meinecke, 1996, American journal of medical genetics.

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

D. Horn, S. Mundlos, S. Tinschert, 2003, European Journal of Human Genetics.

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.

A. Latos-Bieleńska, N. Tommerup, M. Wagner, 1991, American journal of human genetics.

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

E. Haan, R. Nagy, A. de la Chapelle, 2012, Clinical genetics.

Human Couples An Association Between the Kinship and Fertility

R. Hennekam, Y. Crow, A. Ekici, 2008 .

Location and type of mutation in the LIS1 gene do not predict phenotypic severity

J. Winkler, U. Bogdahn, G. Schuierer, 2007, Neurology.

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects

G. Waeber, W. Hul, W. Wuyts, 2004, European Journal of Human Genetics.

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.

J. Hurst, M. Baraitser, P. Meinecke, 1991, Journal of medical genetics.

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

H. Bolz, D. Wieczorek, K. Kutsche, 2003, American journal of medical genetics. Part A.

The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia Further evidence for autosomal recessive inheritance

J. Fryns, P. Meinecke, J. Fryns, 1985, Clinical Genetics.

Fetal brain disruption sequence: a milder variant.

C. Bönnemann, P. Meinecke, 1990, Journal of medical genetics.

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

E. Passarge, P. Meinecke, Eberhard Passarge, 1991, Journal of medical genetics.

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

E. Zackai, J. Massagué, K. Gripp, 2000, Nature Genetics.

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

K. Jones, A. Giannotti, M. Campo, 1999, Human Molecular Genetics.

Compositional analysis of collagen from patients with diverse forms of osteogenesis imperfecta

A. Nerlich, T. Krieg, P. Müller, 2007, Calcified Tissue International.

Contiguous Gene Syndrome with Multiple Exostoses, Enlarged Parietal Foramina, Craniofacial Dysostosis, and Mental Retardation, Caused by Deletions

L. Shaffer, W. Hul, C. Powell, 2007 .

Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q.

P. Meinecke, R. Meinecke, 1987, Journal of medical genetics.

Further delineation of the branchio-oculo-facial syndrome.

H. Brunner, R. Gorlin, A. Lin, 1995, American journal of medical genetics.

[CHILD syndrome. Case report of a rare genetic dermatosis].

P. Meinecke, C. Peter, 1993, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

H. Brunner, E. Lemyre, R. Wevers, 2008, European Journal of Human Genetics.

Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn

W. Holzgreve, H. Rehder, P. Meinecke, 1990, Clinical genetics.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

D. Horn, B. Lorenz, D. Wieczorek, 2005, European journal of medical genetics.

EEC syndrome without ectrodactyly? Report of 8 cases

P. Meinecke, F. Majewski, W. Küster, 1985, Clinical genetics.

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

D. Wieczorek, O. Riess, B. Albrecht, 2000, Journal of medical genetics.

Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype

P. Meinecke, T. Koske-Westphal, 1980, Clinical genetics.

Hyperphosphatasia‐mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

D. Horn, P. Krawitz, P. Meinecke, 2011, American journal of medical genetics. Part A.

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia.

N. Dokholyan, F. Kortüm, K. Kutsche, 2020, Cell calcium.

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

R. Hennekam, A. Rosenthal, G. Glöckner, 2000, Nature Genetics.

Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8

M. Muenke, B. Horsthemke, P. Meinecke, 1999, Human Genetics.

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

N. Niikawa, K. Devriendt, R. Hennekam, 2001, American journal of human genetics.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Meghan C Towne, Lovelace J. Luquette, C. Brownstein, 2013, European journal of medical genetics.

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

D. Horn, W. Heinritz, P. Meinecke, 2014, BMC Medical Genetics.

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Stefan Mundlos, Denise Horn, Dirk Schnabel, 2006, Journal of Medical Genetics.

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father

D. Mitter, D. Krakow, P. Meinecke, 2008, American journal of medical genetics. Part A.

Next-generation sequencing in X-linked intellectual disability

P. Bauer, C. Evers, C. Schroeder, 2015, European Journal of Human Genetics.

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

A. Janecke, M. Bros, C. Hübner, 2011, Nature Genetics.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

A. Ballabio, I. Lerer, G. Rosenberger, 2006, American Journal of Human Genetics.

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

R Rizzo, J Kunze, M. Kalff-Suske, 1999, Human molecular genetics.

Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature

G. Gillessen‐kaesbach, P. Meinecke, L. Grozdanova, 2010, Clinical dysmorphology.

Burning down DEFECT11.

A. Wilkie, W. Van Hul, P. Meinecke, 2001, American journal of medical genetics.

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

J. Hoeijmakers, G. Garinis, W. Vermeulen, 2006, Nature.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

N. Philip, S. Aymé, A. Selicorni, 1992, Clinical dysmorphology.

Fryns syndrome: two further cases without lateral diaphragmatic defects

P. Meinecke, O. Bartsch, G. Kamin, 1995, Clinical dysmorphology.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

Wiedemann–Steiner syndrome: Three further cases

A. Kuechler, P. Meinecke, R. Koenig, 2010, American journal of medical genetics. Part A.

Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?

P. Meinecke, T. Goecke, E. Majewski, 1996, American journal of medical genetics.

Robin sequence and oligodactyly in mother and son—probably a further example of the postaxial acrofacial dysostosis syndrome

J. Opitz, P. Meinecke, H. Wiedemann, 1987, American journal of medical genetics.

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

Stephanie Spranger, Malik Alawi, Kerstin Kutsche, 2017, Pediatrics.

Smith-Lemli-Opitz syndrome.

W. Blunck, P. Meinecke, A. Rodewald, 1987, American journal of medical genetics.

Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp

A. Gal, A. von der Wense, P. Meinecke, 2002, Cytogenetic and Genome Research.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

J. Lupski, F. Kortüm, V. Sutton, 2019, American journal of medical genetics. Part A.

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

J. Carette, M. Raaben, S. Whelan, 2013, Science.

Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome

H. Hamm, P. Meinecke, H. Traupe, 1991, European Journal of Pediatrics.

Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with the Smith-Magenis syndrome due to interstitial deletion of 17p.

P. Meinecke, 1993, American journal of medical genetics.

Intrauterine growth retardation, mild frontonasal dysplasia, phocomelic upper limbs with absent thumbs and a variety of internal malformations including choanal atresia, congenital heart defects, polysplenia, absent gall bladder as well as genitourinary anomalies. A possibly "new" MCA syndrome?

M. Peper, P. Meinecke, 1992, Genetic counseling.

Limb anomalies in the CHARGE association.

P. Meinecke, A. Polke, P. Schmiegelow, 1989, Journal of medical genetics.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

J. Opitz, K. Devriendt, H. Firth, 2005, American journal of medical genetics. Part A.

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.

A. Czeizel, K. Kutsche, A. Gal, 2004, Genomics.

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families

I. Kennerknecht, M. Zank, E. Passarge, 1993, Human Genetics.

Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.

P. Meinecke, H. Hayek, 1990, Journal of medical genetics.

Brief historical note on the Brachmann-de Lange syndrome: a patient closely resembling the case described by Brachmann in 1916.

P. Meinecke, H. Hayek, 1990, American journal of medical genetics.

A specific syndrome due to deletion of the distal long arm of chromosome 1.

P. Meinecke, D. Vögtel, 1987, American journal of medical genetics.

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

Golder N Wilson, N. Philip, J. Fryns, 1994, European Journal of Pediatrics.

Kabuki make-up syndrome in a caucasian

P. Meinecke, A. Rodewald, 1989 .

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

K. Devriendt, R. Hennekam, H. Brunner, 2008, Science.

Potter sequence due to renal aplasia and postaxial hexadactyly. A distinct entity?

P. Meinecke, A. Peters, W. Ziegenrücker, 1993, Genetic counseling.

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

A. Hoischen, Martin Kircher, D. Horn, 2023, Nature.

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.

H. Rehder, B. Padberg, G. Gillessen‐kaesbach, 1993, American journal of medical genetics.

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

A. Munnich, M. Thompson, Roberto Mendoza, 2010, American journal of medical genetics. Part A.

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.

M. Weiss, A. Rauch, K. Kutsche, 2020, American journal of human genetics.

Encephalopathy of Infancy with Intracerebral Calcification and Chronic Spinal Fluid Lymphocytosis - Another Case of the Aicardi-Goutières Syndrome

C. Bönnemann, P. Meinecke, Bönnemann Cg, 1992, Neuropediatrics.

Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.

C. Bönnemann, P. Meinecke, H. Reich, 1991, Journal of medical genetics.

New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias

D. Chitayat, A. Superti-Furga, M. le Merrer, 2001, Pediatric Radiology.

A second case of Devriendt syndrome

P. Meinecke, R. Koenig, S. Fuchs, 2005, Clinical dysmorphology.

The cerebro-costo-mandibular syndrome: seven patients and review of the literature.

B. Hamel, J. van den Ende, C. D. de Die-Smulders, 1998, Clinical dysmorphology.

Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients.

J. Fryns, C. D. de Die-Smulders, J. Schrander, 1996, Genetic counseling.

[Cerebro-costo-mandibular syndrome without cerebral involvement in a 4-year-old boy].

P. Meinecke, G. Wolff, E. Schaefer, 1987, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

Who gets dipyrone (metamizole) in Germany? Prescribing by age, sex and region

G. Glaeske, M. Freitag, F. Hoffmann, 2015, Journal of clinical pharmacy and therapeutics.

Agnathia, holoprosencephaly, and situs inversus: a third report.

B. Padberg, P. Meinecke, R. Laas, 1990, American journal of medical genetics.

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

S. Mundlos, C. Ott, E. Klopocki, 2009, American journal of human genetics.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

D. Horn, H. Hennies, D. Chitayat, 2005, Journal of Medical Genetics.

Desbuquois syndrome: three further cases and review of the literature.

K. Zerres, M. Ausems, F. Beemer, 1995, Clinical dysmorphology.

Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation.

P. Meinecke, P. Maroteaux, J. Spranger, 1989, American journal of medical genetics.

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital‐spectrum disorder with a variable, intermediate phenotype

H. Bolz, A. Gal, P. Meinecke, 2005, American journal of medical genetics. Part A.

Isochromosome Xq in Klinefelter syndrome: report of 7 new cases.

E. Nieschlag, P. Meinecke, G. Wolff, 1996, American journal of medical genetics.

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

D. Horn, G. Schottmann, P. Meinecke, 2010, European journal of medical genetics.

The velo-cardio-facial (Shprintzen) syndrome

F. Beemer, A. Schinzel, P. Meinecke, 1986, European Journal of Pediatrics.

Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III.

P. Meinecke, H. Wiedemann, E. Schaefer, 1991, American journal of medical genetics.

Phenotypic spectrum of Microcephalic osteodysplastic primordial dwarfism type Majewski II caused by mutations in the Pericentrin (PCNT) Gene

K. Devriendt, R. Hennekam, H. Brunner, 2008 .

Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other.

D. Wieczorek, P. Meinecke, E. Harms, 2001, American journal of medical genetics.

Campomelic dysplasia without overt campomelia.

P. Meinecke, U. Friedrich, E. Schaefer, 1992, Clinical dysmorphology.

TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans

K. Kutsche, T. Schinke, P. Meinecke, 2023, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Reply to Dr. Taybi

E. Passarge, P. Meinecke, 1992 .

Frontonasal dysplasia, congenital heart defect, and short stature: a further observation.

W. Blunck, P. Meinecke, 1989, Journal of medical genetics.

"C" trigonocephaly syndrome with diaphragmnatic hernia.

D. Lacombe, D. Schorderet, M. Addor, 1995, Genetic counseling.

Marfan-like features and congenital contractural arachnodactyly.

P. Meinecke, 1982, Jornal de Pediatria.

Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.

J. Fryns, A. Plomp, C. D. de Die-Smulders, 1995, Genetic counseling.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Familial megalencephaly with dilated Virchow–Robin spaces in magnetic resonance imaging: an autosomal recessive trait?

C. Bönnemann, C. Härtel, J. Sperner, 2005, Clinical dysmorphology.

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

P. Meinecke, Eberhard Passarge, 1991, Journal of medical genetics.